Canonical Allele Identifier: CA2623672783

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169868-ACTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169869_110169872del , CM000675.2:g.110169869_110169872del	GRCh38
NC_000013.10:g.110822216_110822219del , CM000675.1:g.110822216_110822219del	GRCh37
NC_000013.9:g.109620217_109620220del	NCBI36
NG_011544.2:g.142278_142281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-110_3743-107del MANE Select	ENSP00000364979.4:n.3743-110_3743-107del
ENST00000375820.8:c.3743-110_3743-107del	ENSP00000364979.4:n.3743-110_3743-107del
NM_001845.5:c.3743-110_3743-107del	NP_001836.3:n.3743-110_3743-107del
XM_011521048.1:c.3551-110_3551-107del	XP_011519350.1:n.3551-110_3551-107del
XM_011521048.2:c.3551-110_3551-107del	XP_011519350.1:n.3551-110_3551-107del
NM_001845.6:c.3743-110_3743-107del MANE Select	NP_001836.3:n.3743-110_3743-107del