(used for variant description)
(last modified October 18, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_016519.5 in the AMBN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering AMBN transcript NM_016519.5.
(upstream sequence)
. . . . g.5041
gaagtacagagcaagtcccacgcacagtcctgaaaaaaatt c.-61
. . . . . . g.5101
ttaatcttcttttcttagaactatcttggttggcatcatcaggccctgagagcacagtgc c.-1
. | 02 . . . . . g.6114
ATGTCAGCATCTAAG | ATTCCACTTTTCAAAATGAAGGACCTGATACTGATCCTATGCCTC c.60
M S A S K | I P L F K M K D L I L I L C L p.20
. . | 03 . . . . g.9777
CTGGAAATGAGTTTTGCAGTGCCG | TTCTTTCCTCAGCAATCTGGAACACCGGGTATGGCT c.120
L E M S F A V P | F F P Q Q S G T P G M A p.40
. | 04 . . . . . g.11143
AGTTTGAGCCTTGAG | ACAATGAGACAGTTGGGAAGTCTGCAGAGATTAAACACACTTTCT c.180
S L S L E | T M R Q L G S L Q R L N T L S p.60
| 05 . . . . . . g.12335
CAG | TATTCTAGATACGGCTTTGGAAAATCATTTAATTCTTTGTGGATGCACGGTCTCCTC c.240
Q | Y S R Y G F G K S F N S L W M H G L L p.80
. . . . . | 06 . g.14166
CCACCACATTCCTCTCTTCCATGGATGAGGCCAAGAGAACATGAAACTCAACAG | TATGAA c.300
P P H S S L P W M R P R E H E T Q Q | Y E p.100
. . . . . . g.14226
TATTCTTTGCCTGTGCATCCCCCACCTCTCCCATCACAGCCATCCTTGAAGCCTCAACAG c.360
Y S L P V H P P P L P S Q P S L K P Q Q p.120
. . . . . . g.14286
CCAGGACTGAAACCTTTTCTCCAGTCTGCTGCTGCAACCACCAACCAGGCCACAGCACTG c.420
P G L K P F L Q S A A A T T N Q A T A L p.140
. . . . . . g.14346
AAAGAAGCACTTCAGCCTCCAATTCACCTGGGACATCTGCCCTTGCAGGAAGGAGAACTG c.480
K E A L Q P P I H L G H L P L Q E G E L p.160
. . . . . | 07 . g.15375
CCTCTGGTTCAGCAGCAGGTGGCACCATCAGATAAGCCACCAAAGCCTGAG | CTCCCAGGA c.540
P L V Q Q Q V A P S D K P P K P E | L P G p.180
. . . | 08 . . . g.15570
GTAGATTTTGCTGATCCACAAGGTCCATCA | CTCCCAGGAATGGATTTTCCTGATCCACAA c.600
V D F A D P Q G P S | L P G M D F P D P Q p.200
| 09 . . . | 10 . g.16014
GGTCCATCA | CTCCCAGGATTGGATTTTGCTGATCCACAAGGTTCAACA | ATTTTCCAAATA c.660
G P S | L P G L D F A D P Q G S T | I F Q I p.220
. . . . | 11 . g.16170
GCCCGTTTGATTTCTCACGGACCAATGCCACAAAATAAACAATCTCCA | CTTTATCCAGGA c.720
A R L I S H G P M P Q N K Q S P | L Y P G p.240
. . . | 12 . . . g.16646
ATGTTGTACGTGCCTTTTGGAGCAAATCAATTG | AATGCCCCTGCCAGACTTGGCATCATG c.780
M L Y V P F G A N Q L | N A P A R L G I M p.260
. | 13 . . . . g.18969
AGTTCAGAAGAAGTGGCA | GGCGGGAGAGAAGACCCAATGGCCTATGGAGCCATGTTTCCA c.840
S S E E V A | G G R E D P M A Y G A M F P p.280
. . . . . . g.19029
GGATTTGGAGGCATGAGGCCCGGCTTTGAGGGAATGCCCCACAACCCAGCTATGGGCGGT c.900
G F G G M R P G F E G M P H N P A M G G p.300
. . . . . . g.19089
GACTTCACTCTGGAATTTGACTCCCCAGTGGCTGCCACCAAAGGCCCTGAGAACGAAGAA c.960
D F T L E F D S P V A A T K G P E N E E p.320
. . . . . . g.19149
GGAGGTGCACAAGGCTCCCCTATGCCGGAGGCCAACCCAGACAATCTAGAAAACCCAGCT c.1020
G G A Q G S P M P E A N P D N L E N P A p.340
. . . . . . g.19209
TTCCTTACAGAGCTAGAACCTGCTCCCCACGCAGGGCTCCTTGCTCTCCCTAAGGATGAC c.1080
F L T E L E P A P H A G L L A L P K D D p.360
. . . . . . g.19269
ATTCCCGGCCTGCCAAGGAGCCCTTCAGGGAAGATGAAGGGACTCCCCAGCGTCACCCCA c.1140
I P G L P R S P S G K M K G L P S V T P p.380
. . . . . . g.19329
GCAGCTGCTGACCCACTGATGACCCCTGAATTAGCTGATGTTTATAGGACCTACGATGCT c.1200
A A A D P L M T P E L A D V Y R T Y D A p.400
. . . . . . g.19389
GACATGACCACATCCGTGGATTTCCAGGAAGAAGCAACCATGGATACCACGATGGCCCCA c.1260
D M T T S V D F Q E E A T M D T T M A P p.420
. . . . . . g.19449
AACTCTCTGCAAACATCCATGCCAGGAAACAAAGCCCAGGAGCCCGAGATGATGCATGAC c.1320
N S L Q T S M P G N K A Q E P E M M H D p.440
. . g.19473
GCATGGCATTTCCAAGAGCCCTGA c.1344
A W H F Q E P X p.447
. . . . . . g.19533
cagctctaagatattagctactttctgtatgcacaagcttcccagctttgtccccacagt c.*60
. . . . . . g.19593
gtacctttttgctaaaacacttattacccttctgcagcaaaggcattaaaagcgctaagc c.*120
. . . . . . g.19653
atatattaataaatgcaagtggctagaaatagtgtaggtccccttcttgctttcaatatc c.*180
. . . . . . g.19713
ttgttgaaataaaatgtgtcaattgtctctgtgatttagaaacactattaataacatcag c.*240
. . . . . . g.19773
agcaaggttctaagggtctcagcatttgatcatcactttttcttagctgtcttaagcatt c.*300
. . . . . . g.19833
atagaatttctcttaccagcatgacactattatattcaggaaacatggcactgctttttt c.*360
. . . . . . g.19893
ctctaagcaaaggcaaatatcctcataattctaagctaattcatttaaactttattaaat c.*420
. . . . . . g.19953
ggggattggtggaaaactcctgactggtattactgggtttggtataatttaatttaaaat c.*480
. . . . . . g.20013
tctcatttatagagtattttatttaatctagtataaaaaatctagcctattttaaataaa c.*540
. g.20031
gaatttttctcactgaaa c.*558
(downstream sequence)
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