Canonical Allele Identifier: CA256250667
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs67599645

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169516_110169517insAC , CM000675.2:g.110169516_110169517insAC GRCh38
NC_000013.10:g.110821863_110821864insAC , CM000675.1:g.110821863_110821864insAC GRCh37
NC_000013.9:g.109619864_109619865insAC NCBI36
NG_011544.2:g.142633_142634insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+112_3876+113insGT MANE Select ENSP00000364979.4:n.3876+112_3876+113insGT
ENST00000650424.1:c.32+112_32+113insGT
ENST00000375820.8:c.3876+112_3876+113insGT ENSP00000364979.4:n.3876+112_3876+113insGT
NM_001845.5:c.3876+112_3876+113insGT NP_001836.3:n.3876+112_3876+113insGT
XM_011521048.1:c.3684+112_3684+113insGT XP_011519350.1:n.3684+112_3684+113insGT
XM_011521048.2:c.3684+112_3684+113insGT XP_011519350.1:n.3684+112_3684+113insGT
NM_001845.6:c.3876+112_3876+113insGT MANE Select NP_001836.3:n.3876+112_3876+113insGT