Canonical Allele Identifier: CA2623675429

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192393-T-TCCAAGCAATCATCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192393_110192394insCCAAGCAATCATCCAC , CM000675.2:g.110192393_110192394insCCAAGCAATCATCCAC	GRCh38
NC_000013.10:g.110844740_110844741insCCAAGCAATCATCCAC , CM000675.1:g.110844740_110844741insCCAAGCAATCATCCAC	GRCh37
NC_000013.9:g.109642741_109642742insCCAAGCAATCATCCAC	NCBI36
NG_011544.2:g.119756_119757insGTGGATGATTGCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-110_1466-109insGTGGATGATTGCTTGG MANE Select	ENSP00000364979.4:n.1466-110_1466-109insGTGGATGATTGCTTGG
ENST00000543140.6:c.1466-110_1466-109insGTGGATGATTGCTTGG	ENSP00000443348.1:n.1466-110_1466-109insGTGGATGATTGCTTGG
ENST00000649738.1:n.1596-110_1596-109insGTGGATGATTGCTTGG
ENST00000375820.8:c.1466-110_1466-109insGTGGATGATTGCTTGG	ENSP00000364979.4:n.1466-110_1466-109insGTGGATGATTGCTTGG
ENST00000543140.5:c.1466-110_1466-109insGTGGATGATTGCTTGG	ENSP00000443348.1:n.1466-110_1466-109insGTGGATGATTGCTTGG
NM_001303110.1:c.1466-110_1466-109insGTGGATGATTGCTTGG	NP_001290039.1:n.1466-110_1466-109insGTGGATGATTGCTTGG
NM_001845.5:c.1466-110_1466-109insGTGGATGATTGCTTGG	NP_001836.3:n.1466-110_1466-109insGTGGATGATTGCTTGG
XM_011521048.1:c.1274-110_1274-109insGTGGATGATTGCTTGG	XP_011519350.1:n.1274-110_1274-109insGTGGATGATTGCTTGG
XM_011521048.2:c.1274-110_1274-109insGTGGATGATTGCTTGG	XP_011519350.1:n.1274-110_1274-109insGTGGATGATTGCTTGG
NM_001845.6:c.1466-110_1466-109insGTGGATGATTGCTTGG MANE Select	NP_001836.3:n.1466-110_1466-109insGTGGATGATTGCTTGG
NM_001303110.2:c.1466-110_1466-109insGTGGATGATTGCTTGG	NP_001290039.1:n.1466-110_1466-109insGTGGATGATTGCTTGG