Canonical Allele Identifier: CA2118733966

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877584943

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170487_110170495del , CM000675.2:g.110170487_110170495del	GRCh38
NC_000013.10:g.110822834_110822842del , CM000675.1:g.110822834_110822842del	GRCh37
NC_000013.9:g.109620835_109620843del	NCBI36
NG_011544.2:g.141656_141664del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.3742+53_3742+61del MANE Select	ENSP00000364979.4:n.3742+53_3742+61del
ENST00000375820.8:c.3742+53_3742+61del	ENSP00000364979.4:n.3742+53_3742+61del
NM_001845.5:c.3742+53_3742+61del	NP_001836.3:n.3742+53_3742+61del
XM_011521048.1:c.3550+53_3550+61del	XP_011519350.1:n.3550+53_3550+61del
XM_011521048.2:c.3550+53_3550+61del	XP_011519350.1:n.3550+53_3550+61del
NM_001845.6:c.3742+53_3742+61del MANE Select	NP_001836.3:n.3742+53_3742+61del