Canonical Allele Identifier: CA2623672672

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169511-C-CACACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169516_110169517insAACACA , CM000675.2:g.110169516_110169517insAACACA	GRCh38
NC_000013.10:g.110821863_110821864insAACACA , CM000675.1:g.110821863_110821864insAACACA	GRCh37
NC_000013.9:g.109619864_109619865insAACACA	NCBI36
NG_011544.2:g.142638_142639insTTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+117_3876+118insTTGTGT MANE Select	ENSP00000364979.4:n.3876+117_3876+118insTTGTGT
ENST00000650424.1:c.32+117_32+118insTTGTGT
ENST00000375820.8:c.3876+117_3876+118insTTGTGT	ENSP00000364979.4:n.3876+117_3876+118insTTGTGT
NM_001845.5:c.3876+117_3876+118insTTGTGT	NP_001836.3:n.3876+117_3876+118insTTGTGT
XM_011521048.1:c.3684+117_3684+118insTTGTGT	XP_011519350.1:n.3684+117_3684+118insTTGTGT
XM_011521048.2:c.3684+117_3684+118insTTGTGT	XP_011519350.1:n.3684+117_3684+118insTTGTGT
NM_001845.6:c.3876+117_3876+118insTTGTGT MANE Select	NP_001836.3:n.3876+117_3876+118insTTGTGT