Canonical Allele Identifier: CA2600370163

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154210
• gnomAD v3: 13-110169515-C-CAT
• gnomAD v4: 13-110169515-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169516_110169517insTA , CM000675.2:g.110169516_110169517insTA	GRCh38
NC_000013.10:g.110821863_110821864insTA , CM000675.1:g.110821863_110821864insTA	GRCh37
NC_000013.9:g.109619864_109619865insTA	NCBI36
NG_011544.2:g.142634_142635insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+113_3876+114insAT MANE Select	ENSP00000364979.4:n.3876+113_3876+114insAT
ENST00000650424.1:c.32+113_32+114insAT
ENST00000375820.8:c.3876+113_3876+114insAT	ENSP00000364979.4:n.3876+113_3876+114insAT
NM_001845.5:c.3876+113_3876+114insAT	NP_001836.3:n.3876+113_3876+114insAT
XM_011521048.1:c.3684+113_3684+114insAT	XP_011519350.1:n.3684+113_3684+114insAT
XM_011521048.2:c.3684+113_3684+114insAT	XP_011519350.1:n.3684+113_3684+114insAT
NM_001845.6:c.3876+113_3876+114insAT MANE Select	NP_001836.3:n.3876+113_3876+114insAT