Canonical Allele Identifier: CA2623675302

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192151-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192154_110192155del , CM000675.2:g.110192154_110192155del	GRCh38
NC_000013.10:g.110844501_110844502del , CM000675.1:g.110844501_110844502del	GRCh37
NC_000013.9:g.109642502_109642503del	NCBI36
NG_011544.2:g.119997_119998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.1536+61_1536+62del MANE Select	ENSP00000364979.4:n.1536+61_1536+62del
ENST00000543140.6:c.1536+61_1536+62del	ENSP00000443348.1:n.1536+61_1536+62del
ENST00000649738.1:n.1666+61_1666+62del
ENST00000375820.8:c.1536+61_1536+62del	ENSP00000364979.4:n.1536+61_1536+62del
ENST00000543140.5:c.1536+61_1536+62del	ENSP00000443348.1:n.1536+61_1536+62del
NM_001303110.1:c.1536+61_1536+62del	NP_001290039.1:n.1536+61_1536+62del
NM_001845.5:c.1536+61_1536+62del	NP_001836.3:n.1536+61_1536+62del
XM_011521048.1:c.1344+61_1344+62del	XP_011519350.1:n.1344+61_1344+62del
XM_011521048.2:c.1344+61_1344+62del	XP_011519350.1:n.1344+61_1344+62del
NM_001845.6:c.1536+61_1536+62del MANE Select	NP_001836.3:n.1536+61_1536+62del
NM_001303110.2:c.1536+61_1536+62del	NP_001290039.1:n.1536+61_1536+62del