Canonical Allele Identifier: CA2118732786

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179210_110179211delinsGA , CM000675.2:g.110179210_110179211delinsGA	GRCh38
NC_000013.10:g.110831557_110831558delinsGA , CM000675.1:g.110831557_110831558delinsGA	GRCh37
NC_000013.9:g.109629558_109629559delinsGA	NCBI36
NG_011544.2:g.132939_132940delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+60_2344+61delinsTC MANE Select	ENSP00000364979.4:n.2344+60_2344+61delinsTC
ENST00000649738.1:n.2474+60_2474+61delinsTC
ENST00000375820.8:c.2344+60_2344+61delinsTC	ENSP00000364979.4:n.2344+60_2344+61delinsTC
NM_001845.5:c.2344+60_2344+61delinsTC	NP_001836.3:n.2344+60_2344+61delinsTC
XM_011521048.1:c.2152+60_2152+61delinsTC	XP_011519350.1:n.2152+60_2152+61delinsTC
XM_011521048.2:c.2152+60_2152+61delinsTC	XP_011519350.1:n.2152+60_2152+61delinsTC
NM_001845.6:c.2344+60_2344+61delinsTC MANE Select	NP_001836.3:n.2344+60_2344+61delinsTC