Canonical Allele Identifier: CA2623675426

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192392-A-ATCCAAGCAATCATCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192393_110192394insCCAAGCAATCATCCACT , CM000675.2:g.110192393_110192394insCCAAGCAATCATCCACT	GRCh38
NC_000013.10:g.110844740_110844741insCCAAGCAATCATCCACT , CM000675.1:g.110844740_110844741insCCAAGCAATCATCCACT	GRCh37
NC_000013.9:g.109642741_109642742insCCAAGCAATCATCCACT	NCBI36
NG_011544.2:g.119757_119758insGTGGATGATTGCTTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-109_1466-108insGTGGATGATTGCTTGGA MANE Select	ENSP00000364979.4:n.1466-109_1466-108insGTGGATGATTGCTTGGA
ENST00000543140.6:c.1466-109_1466-108insGTGGATGATTGCTTGGA	ENSP00000443348.1:n.1466-109_1466-108insGTGGATGATTGCTTGGA
ENST00000649738.1:n.1596-109_1596-108insGTGGATGATTGCTTGGA
ENST00000375820.8:c.1466-109_1466-108insGTGGATGATTGCTTGGA	ENSP00000364979.4:n.1466-109_1466-108insGTGGATGATTGCTTGGA
ENST00000543140.5:c.1466-109_1466-108insGTGGATGATTGCTTGGA	ENSP00000443348.1:n.1466-109_1466-108insGTGGATGATTGCTTGGA
NM_001303110.1:c.1466-109_1466-108insGTGGATGATTGCTTGGA	NP_001290039.1:n.1466-109_1466-108insGTGGATGATTGCTTGGA
NM_001845.5:c.1466-109_1466-108insGTGGATGATTGCTTGGA	NP_001836.3:n.1466-109_1466-108insGTGGATGATTGCTTGGA
XM_011521048.1:c.1274-109_1274-108insGTGGATGATTGCTTGGA	XP_011519350.1:n.1274-109_1274-108insGTGGATGATTGCTTGGA
XM_011521048.2:c.1274-109_1274-108insGTGGATGATTGCTTGGA	XP_011519350.1:n.1274-109_1274-108insGTGGATGATTGCTTGGA
NM_001845.6:c.1466-109_1466-108insGTGGATGATTGCTTGGA MANE Select	NP_001836.3:n.1466-109_1466-108insGTGGATGATTGCTTGGA
NM_001303110.2:c.1466-109_1466-108insGTGGATGATTGCTTGGA	NP_001290039.1:n.1466-109_1466-108insGTGGATGATTGCTTGGA