Canonical Allele Identifier: CA2623675361

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192344-CCTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192348_110192352del , CM000675.2:g.110192348_110192352del	GRCh38
NC_000013.10:g.110844695_110844699del , CM000675.1:g.110844695_110844699del	GRCh37
NC_000013.9:g.109642696_109642700del	NCBI36
NG_011544.2:g.119801_119805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-65_1466-61del MANE Select	ENSP00000364979.4:n.1466-65_1466-61del
ENST00000543140.6:c.1466-65_1466-61del	ENSP00000443348.1:n.1466-65_1466-61del
ENST00000649738.1:n.1596-65_1596-61del
ENST00000375820.8:c.1466-65_1466-61del	ENSP00000364979.4:n.1466-65_1466-61del
ENST00000543140.5:c.1466-65_1466-61del	ENSP00000443348.1:n.1466-65_1466-61del
NM_001303110.1:c.1466-65_1466-61del	NP_001290039.1:n.1466-65_1466-61del
NM_001845.5:c.1466-65_1466-61del	NP_001836.3:n.1466-65_1466-61del
XM_011521048.1:c.1274-65_1274-61del	XP_011519350.1:n.1274-65_1274-61del
XM_011521048.2:c.1274-65_1274-61del	XP_011519350.1:n.1274-65_1274-61del
NM_001845.6:c.1466-65_1466-61del MANE Select	NP_001836.3:n.1466-65_1466-61del
NM_001303110.2:c.1466-65_1466-61del	NP_001290039.1:n.1466-65_1466-61del