Canonical Allele Identifier: CA2580087246

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110198494_110198495delinsTG , CM000675.2:g.110198494_110198495delinsTG	GRCh38
NC_000013.10:g.110850841_110850842delinsTG , CM000675.1:g.110850841_110850842delinsTG	GRCh37
NC_000013.9:g.109648842_109648843delinsTG	NCBI36
NG_011544.2:g.113655_113656delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.1257_1258delinsCA MANE Select	NP_001836.3:p.Gly420Arg
ENST00000375820.10:c.1257_1258delinsCA MANE Select	ENSP00000364979.4:p.Gly420Arg
NM_001303110.1:c.1257_1258delinsCA	NP_001290039.1:p.Gly420Arg
NM_001303110.2:c.1257_1258delinsCA	NP_001290039.1:p.Gly420Arg
NM_001845.5:c.1257_1258delinsCA	NP_001836.3:p.Gly420Arg
ENST00000375820.8:c.1257_1258delinsCA	ENSP00000364979.4:p.Gly420Arg
ENST00000543140.5:c.1257_1258delinsCA	ENSP00000443348.1:p.Gly420Arg
ENST00000543140.6:c.1257_1258delinsCA	ENSP00000443348.1:p.Gly420Arg
ENST00000647797.1:c.1136_1137delinsCA
ENST00000649738.1:n.1387_1388delinsCA
XM_011521048.1:c.1065_1066delinsCA	XP_011519350.1:p.Gly356Arg
XM_011521048.2:c.1065_1066delinsCA	XP_011519350.1:p.Gly356Arg