Canonical Allele Identifier: CA2623672649

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169497-A-AACACACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169504_110169505insTACACACA , CM000675.2:g.110169504_110169505insTACACACA	GRCh38
NC_000013.10:g.110821851_110821852insTACACACA , CM000675.1:g.110821851_110821852insTACACACA	GRCh37
NC_000013.9:g.109619852_109619853insTACACACA	NCBI36
NG_011544.2:g.142652_142653insATGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+131_3876+132insATGTGTGT MANE Select	ENSP00000364979.4:n.3876+131_3876+132insATGTGTGT
ENST00000650424.1:c.32+131_32+132insATGTGTGT
ENST00000375820.8:c.3876+131_3876+132insATGTGTGT	ENSP00000364979.4:n.3876+131_3876+132insATGTGTGT
NM_001845.5:c.3876+131_3876+132insATGTGTGT	NP_001836.3:n.3876+131_3876+132insATGTGTGT
XM_011521048.1:c.3684+131_3684+132insATGTGTGT	XP_011519350.1:n.3684+131_3684+132insATGTGTGT
XM_011521048.2:c.3684+131_3684+132insATGTGTGT	XP_011519350.1:n.3684+131_3684+132insATGTGTGT
NM_001845.6:c.3876+131_3876+132insATGTGTGT MANE Select	NP_001836.3:n.3876+131_3876+132insATGTGTGT