(used for variant description)
(last modified August 24, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_003467.2 in the CXCR4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering CXCR4 transcript NM_003467.2.
(upstream sequence)
. . . g.5035
aacttcagtttgttggctgcggcagcaggtagcaa c.-61
. . . . . . g.5095
agtgacgccgagggcctgagtgctccagtagccaccgcatctggagaaccagcggttacc c.-1
. | 02 . . . . . g.7288
ATGGAGGGGATCAGT | ATATACACTTCAGATAACTACACCGAGGAAATGGGCTCAGGGGAC c.60
M E G I S | I Y T S D N Y T E E M G S G D p.20
. . . . . . g.7348
TATGACTCCATGAAGGAACCCTGTTTCCGTGAAGAAAATGCTAATTTCAATAAAATCTTC c.120
Y D S M K E P C F R E E N A N F N K I F p.40
. . . . . . g.7408
CTGCCCACCATCTACTCCATCATCTTCTTAACTGGCATTGTGGGCAATGGATTGGTCATC c.180
L P T I Y S I I F L T G I V G N G L V I p.60
. . . . . . g.7468
CTGGTCATGGGTTACCAGAAGAAACTGAGAAGCATGACGGACAAGTACAGGCTGCACCTG c.240
L V M G Y Q K K L R S M T D K Y R L H L p.80
. . . . . . g.7528
TCAGTGGCCGACCTCCTCTTTGTCATCACGCTTCCCTTCTGGGCAGTTGATGCCGTGGCA c.300
S V A D L L F V I T L P F W A V D A V A p.100
. . . . . . g.7588
AACTGGTACTTTGGGAACTTCCTATGCAAGGCAGTCCATGTCATCTACACAGTCAACCTC c.360
N W Y F G N F L C K A V H V I Y T V N L p.120
. . . . . . g.7648
TACAGCAGTGTCCTCATCCTGGCCTTCATCAGTCTGGACCGCTACCTGGCCATCGTCCAC c.420
Y S S V L I L A F I S L D R Y L A I V H p.140
. . . . . . g.7708
GCCACCAACAGTCAGAGGCCAAGGAAGCTGTTGGCTGAAAAGGTGGTCTATGTTGGCGTC c.480
A T N S Q R P R K L L A E K V V Y V G V p.160
. . . . . . g.7768
TGGATCCCTGCCCTCCTGCTGACTATTCCCGACTTCATCTTTGCCAACGTCAGTGAGGCA c.540
W I P A L L L T I P D F I F A N V S E A p.180
. . . . . . g.7828
GATGACAGATATATCTGTGACCGCTTCTACCCCAATGACTTGTGGGTGGTTGTGTTCCAG c.600
D D R Y I C D R F Y P N D L W V V V F Q p.200
. . . . . . g.7888
TTTCAGCACATCATGGTTGGCCTTATCCTGCCTGGTATTGTCATCCTGTCCTGCTATTGC c.660
F Q H I M V G L I L P G I V I L S C Y C p.220
. . . . . . g.7948
ATTATCATCTCCAAGCTGTCACACTCCAAGGGCCACCAGAAGCGCAAGGCCCTCAAGACC c.720
I I I S K L S H S K G H Q K R K A L K T p.240
. . . . . . g.8008
ACAGTCATCCTCATCCTGGCTTTCTTCGCCTGTTGGCTGCCTTACTACATTGGGATCAGC c.780
T V I L I L A F F A C W L P Y Y I G I S p.260
. . . . . . g.8068
ATCGACTCCTTCATCCTCCTGGAAATCATCAAGCAAGGGTGTGAGTTTGAGAACACTGTG c.840
I D S F I L L E I I K Q G C E F E N T V p.280
. . . . . . g.8128
CACAAGTGGATTTCCATCACCGAGGCCCTAGCTTTCTTCCACTGTTGTCTGAACCCCATC c.900
H K W I S I T E A L A F F H C C L N P I p.300
. . . . . . g.8188
CTCTATGCTTTCCTTGGAGCCAAATTTAAAACCTCTGCCCAGCACGCACTCACCTCTGTG c.960
L Y A F L G A K F K T S A Q H A L T S V p.320
. . . . . . g.8248
AGCAGAGGGTCCAGCCTCAAGATCCTCTCCAAAGGAAAGCGAGGTGGACATTCATCTGTT c.1020
S R G S S L K I L S K G K R G G H S S V p.340
. . . g.8287
TCCACTGAGTCTGAGTCTTCAAGTTTTCACTCCAGCTAA c.1059
S T E S E S S S F H S S X p.352
. . . . . . g.8347
cacagatgtaaaagacttttttttatacgataaataacttttttttaagttacacatttt c.*60
. . . . . . g.8407
tcagatataaaagactgaccaatattgtacagtttttattgcttgttggatttttgtctt c.*120
. . . . . . g.8467
gtgtttctttagtttttgtgaagtttaattgacttatttatataaattttttttgtttca c.*180
. . . . . . g.8527
tattgatgtgtgtctaggcaggacctgtggccaagttcttagttgctgtatgtctcgtgg c.*240
. . . . . . g.8587
taggactgtagaaaagggaactgaacattccagagcgtgtagtgaatcacgtaaagctag c.*300
. . . . . . g.8647
aaatgatccccagctgtttatgcatagataatctctccattcccgtggaacgtttttcct c.*360
. . . . . . g.8707
gttcttaagacgtgattttgctgtagaagatggcacttataaccaaagcccaaagtggta c.*420
. . . . . . g.8767
tagaaatgctggtttttcagttttcaggagtgggttgatttcagcacctacagtgtacag c.*480
. . . . g.8807
tcttgtattaagttgttaataaaagtacatgttaaactta c.*520
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 28
©2004-2022 Leiden University Medical Center