(used for variant description)
(last modified December 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001007248.2 in the ZNF599 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering ZNF599 transcript NM_001007248.2.
(upstream sequence)
. . g.5028
gtgggcgggacttccggcgtccagtctt c.-361
. . . . . . g.5088
cgtccgccgttaggttgcggctgctgtggttgccaacgctacactgggtagaacgccaga c.-301
. . . . . . g.5148
caggggccacttttcgagaccgagtagagacggacagtgaggaggataggacccacttac c.-241
. . . . . . g.5208
acgcttttatgtcagccgcgatcccacccccacaagcgtctgcaaaacccttcctggggc c.-181
. . . . . . g.5268
cttggcgacagccctgtgtcctcacggcgcgcagaggcggcgccgcgaaccttgtgtgca c.-121
. . . . . . g.5328
ttttacacgacggcggggactgaggtccctcgcagcccagagccggagcccggggtcggc c.-61
. . . . . . g.5388
cgagcccgcaggaccggcttcctcgccgactctcacggcctcacccagccccctgggccc c.-1
. | 02 . . . . g.8716
ATGGCGGCGCCGGCGTTG | GCATTAGTATCATTTGAAGACGTGGTTGTGACCTTCACTGGA c.60
M A A P A L | A L V S F E D V V V T F T G p.20
. . . . . . g.8776
GAGGAATGGGGGCACCTGGACCTGGCCCAGAGGACCCTGTACCAGGAGGTGATGCTGGAG c.120
E E W G H L D L A Q R T L Y Q E V M L E p.40
. . | 03 . . . . g.10853
ACCTGCAGGCTCCTGGTCTCACTGG | GGCATCCTGTTCCCAAACCAGAGCTGATCTATCTA c.180
T C R L L V S L G | H P V P K P E L I Y L p.60
. . . . . . g.10913
CTGGAACATGGACAGGAACTGTGGACAGTGAAGAGAGGCCTCTCCCAAAGCACCTGCGCA c.240
L E H G Q E L W T V K R G L S Q S T C A p.80
| 04 . . . . . . g.17729
G | GTGAAAAAGCAAAACCCAAGATTACAGAGCCTACTGCTTCTCAGCTGGCCTTCTCTGAG c.300
G | E K A K P K I T E P T A S Q L A F S E p.100
. . . . . . g.17789
GAATCCTCTTTCCAGGAACTTCTGGCACAGAGATCCTCAAGAGATTCCAGGTTGGGGCAA c.360
E S S F Q E L L A Q R S S R D S R L G Q p.120
. . . . . . g.17849
GCTAGAGATGAGGAAAAGCTAATAAAAATTCAGGAAGGGAACTTGAGGCCAGGAACAAAC c.420
A R D E E K L I K I Q E G N L R P G T N p.140
. . . . . . g.17909
CCCCACAAAGAGATATGCCCTGAGAAGTTGAGTTATAAACATGATGATTTGGAGCCAGAT c.480
P H K E I C P E K L S Y K H D D L E P D p.160
. . . . . . g.17969
GATAGTCTGGGCTTAAGGGTTTTACAGGAACGAGTCACTCCACAAGATGCTCTCCATGAG c.540
D S L G L R V L Q E R V T P Q D A L H E p.180
. . . . . . g.18029
TGTGACTCTCAAGGACCAGGAAAAGACCCCATGACTGATGCAAGGAATAACCCTTACACA c.600
C D S Q G P G K D P M T D A R N N P Y T p.200
. . . . . . g.18089
TGCACGGAATGTGGGAAAGGGTTTAGCAAGAAGTGGGCCCTTGTTCGGCATCAACAGATT c.660
C T E C G K G F S K K W A L V R H Q Q I p.220
. . . . . . g.18149
CATGCTGGAGTGAAGCCCTATGAGTGCAATGAGTGTGGGAAAGCCTGTCGTTATATGGCT c.720
H A G V K P Y E C N E C G K A C R Y M A p.240
. . . . . . g.18209
GATGTCATTCGACATATGAGGCTTCATACTGGGGAAAAACCATACAAGTGTATTGAGTGT c.780
D V I R H M R L H T G E K P Y K C I E C p.260
. . . . . . g.18269
GGGAAAGCCTTCAAACGCAGGTTTCACCTCACGGAGCACCAGCGTATTCACACCGGAGAT c.840
G K A F K R R F H L T E H Q R I H T G D p.280
. . . . . . g.18329
AAGCCCTATGAGTGCAAAGAATGTGGCAAAGCATTCACCCACCGCTCTTCTTTTATCCAG c.900
K P Y E C K E C G K A F T H R S S F I Q p.300
. . . . . . g.18389
CATAATATGACTCACACTCGAGAAAAACCCTTTTTATGCAAAGAATGTGGGAAAGCTTTT c.960
H N M T H T R E K P F L C K E C G K A F p.320
. . . . . . g.18449
TACTACAGCTCCTCATTTGCTCAACATATGAGGATTCATACTGGAAAGAAACTCTATGAG c.1020
Y Y S S S F A Q H M R I H T G K K L Y E p.340
. . . . . . g.18509
TGCGGTGAATGTGGAAAGGCCTTCACGCACCGCTCCACATTTATCCAGCACAATGTGACC c.1080
C G E C G K A F T H R S T F I Q H N V T p.360
. . . . . . g.18569
CACACAGGAGAAAAACCATTTTTATGTAAAGAATGTGGAAAAACCTTTTGCCTCAACTCA c.1140
H T G E K P F L C K E C G K T F C L N S p.380
. . . . . . g.18629
TCCTTCACTCAGCACATGAGGATTCACACTGGAGAGAAACCCTATGAGTGCGGTGAATGT c.1200
S F T Q H M R I H T G E K P Y E C G E C p.400
. . . . . . g.18689
GGAAAGGCCTTTACTCATCGCTCCACTTTCATCCGACATAAGAGGACCCATACCGGAGAG c.1260
G K A F T H R S T F I R H K R T H T G E p.420
. . . . . . g.18749
AAGCCCTTTGAGTGCAAAGAATGTGGGAAGGCCTTTTGTGACAGCTCTTCCTTAATTCAA c.1320
K P F E C K E C G K A F C D S S S L I Q p.440
. . . . . . g.18809
CATATGAGGATTCACACTGGTGAGAAGCCTTATGAGTGCAGTGAATGTGGAAAGGCTTTT c.1380
H M R I H T G E K P Y E C S E C G K A F p.460
. . . . . . g.18869
ACACACCACTCTGTTTTTATTCGACATAATAGGACCCACAGTGGACAAAAACCCTTGGAG c.1440
T H H S V F I R H N R T H S G Q K P L E p.480
. . . . . . g.18929
TGCAAAGAATGTGCAAAAGCCTTTTACTATAGCTCTTCCTTCACTCGACACATGAGGATT c.1500
C K E C A K A F Y Y S S S F T R H M R I p.500
. . . . . . g.18989
CACACTGGAGAGAAGCCCTATGTTTGTAGAGAATGTGGAAAGGCTTTTACCCAACCTGCA c.1560
H T G E K P Y V C R E C G K A F T Q P A p.520
. . . . . . g.19049
AATTTTGTTCGGCATAATAGGATCCACACTGGAGAAAAACCTTTTGAATGCAAAGAATGT c.1620
N F V R H N R I H T G E K P F E C K E C p.540
. . . . . . g.19109
GAGAAAGCCTTCTGTGACAACTTTGCTTTAACTCAGCACATGAGAACTCACACTGGAGAG c.1680
E K A F C D N F A L T Q H M R T H T G E p.560
. . . . . . g.19169
AAACCCTTTGAATGCAATGAATGTGGAAAGACCTTCAGCCACAGTTCATCGTTCACTCAC c.1740
K P F E C N E C G K T F S H S S S F T H p.580
. . g.19196
CATCGAAAGATTCATACCAGAGTTTAA c.1767
H R K I H T R V X p.588
. . . . . . g.19256
aagatacaggaaggcctattacaagtgtgtttgtctttagtgaactcatagtggtgacat c.*60
. . . . . . g.19316
acctttccttttgagtataactattgagggaaatattttggccagagagatgtcttagta c.*120
. . . . . . g.19376
tctgataatttatactaactagaaacagaattgtccctgtgaaatctttttatggcaggt c.*180
. . . . . . g.19436
aatcacttgtcatccaaagaattatattaaagattcacccagtttagagccttacactgt c.*240
. . . . . . g.19496
acctgagaataatcgaggggagagacctggtggttaacatgcatttaggtaaaatgtcag c.*300
. . . . . . g.19556
gaacaactttcctcttattaatactataaatccatctcaagcatattttaaaataatgag c.*360
. . . . . . g.19616
agatggaggaaacaatctagaagataaaagaaaaagatgtgcataacttgttttcagttt c.*420
. . . . . . g.19676
ccctgtttatgacagtttgtcatttggcgggttgggggatggagcagggaataagacatt c.*480
. . . . . . g.19736
gaaaaagtctcatcccctttgtgtgttttacatatatatatctctaagtccagagccagg c.*540
. . . . . . g.19796
agagttggaccattgagggcagctctgccaacatttagtaaaagtattcattgttccaaa c.*600
. . . . . . g.19856
actgtcatctctacccttgagggagtgtgtctttgtgagaaatataaaggcttgagtcat c.*660
. . . . . . g.19916
gaaatacttaacacatgtgcacatgtacacatgtacatttatatgcagtgaattgttact c.*720
. . . . . . g.19976
cgtggtagttaggttctgtgaattttctgtgcacactgaattagtgaatgctgaatgatt c.*780
. . . . . . g.20036
gttgctaggggaaatacagcgttagcttctgtgagcctctgatccaaacatttttatcaa c.*840
. . . . . . g.20096
ccagtcaacacataaccttcttctatgggtatttgtttgtttgtttgtttaaagacactt c.*900
. . . . . . g.20156
tatcagtgtttcttgaataattataattattctttataataaaaatattttaattatagc c.*960
(downstream sequence)
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