Canonical Allele Identifier: CA2118733107

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877538292

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169977del , CM000675.2:g.110169977del	GRCh38
NC_000013.10:g.110822324del , CM000675.1:g.110822324del	GRCh37
NC_000013.9:g.109620325del	NCBI36
NG_011544.2:g.142173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-215del MANE Select	ENSP00000364979.4:n.3743-215del
ENST00000375820.8:c.3743-215del	ENSP00000364979.4:n.3743-215del
NM_001845.5:c.3743-215del	NP_001836.3:n.3743-215del
XM_011521048.1:c.3551-215del	XP_011519350.1:n.3551-215del
XM_011521048.2:c.3551-215del	XP_011519350.1:n.3551-215del
NM_001845.6:c.3743-215del MANE Select	NP_001836.3:n.3743-215del