Canonical Allele Identifier: CA2118732974

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877529018

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169918_110169919insCGGA , CM000675.2:g.110169918_110169919insCGGA	GRCh38
NC_000013.10:g.110822265_110822266insCGGA , CM000675.1:g.110822265_110822266insCGGA	GRCh37
NC_000013.9:g.109620266_109620267insCGGA	NCBI36
NG_011544.2:g.142234_142235insGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-154_3743-153insGTCC MANE Select	ENSP00000364979.4:n.3743-154_3743-153insGTCC
ENST00000375820.8:c.3743-154_3743-153insGTCC	ENSP00000364979.4:n.3743-154_3743-153insGTCC
NM_001845.5:c.3743-154_3743-153insGTCC	NP_001836.3:n.3743-154_3743-153insGTCC
XM_011521048.1:c.3551-154_3551-153insGTCC	XP_011519350.1:n.3551-154_3551-153insGTCC
XM_011521048.2:c.3551-154_3551-153insGTCC	XP_011519350.1:n.3551-154_3551-153insGTCC
NM_001845.6:c.3743-154_3743-153insGTCC MANE Select	NP_001836.3:n.3743-154_3743-153insGTCC