Canonical Allele Identifier: CA2118732787

Gene: COL4A1

Linked Data

• dbSNP Id: rs1878030590

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179212del , CM000675.2:g.110179212del	GRCh38
NC_000013.10:g.110831559del , CM000675.1:g.110831559del	GRCh37
NC_000013.9:g.109629560del	NCBI36
NG_011544.2:g.132939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+60del MANE Select	ENSP00000364979.4:n.2344+60del
ENST00000649738.1:n.2474+60del
ENST00000375820.8:c.2344+60del	ENSP00000364979.4:n.2344+60del
NM_001845.5:c.2344+60del	NP_001836.3:n.2344+60del
XM_011521048.1:c.2152+60del	XP_011519350.1:n.2152+60del
XM_011521048.2:c.2152+60del	XP_011519350.1:n.2152+60del
NM_001845.6:c.2344+60del MANE Select	NP_001836.3:n.2344+60del