Canonical Allele Identifier: CA2623680946

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110205188-AATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205191_110205193del , CM000675.2:g.110205191_110205193del	GRCh38
NC_000013.10:g.110857538_110857540del , CM000675.1:g.110857538_110857540del	GRCh37
NC_000013.9:g.109655539_109655541del	NCBI36
NG_011544.2:g.106959_106961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.957+162_957+164del MANE Select	ENSP00000364979.4:n.957+162_957+164del
ENST00000543140.6:c.957+162_957+164del	ENSP00000443348.1:n.957+162_957+164del
ENST00000647632.1:n.752_754del
ENST00000647797.1:c.836+162_836+164del
ENST00000649738.1:n.1087+162_1087+164del
ENST00000375820.8:c.957+162_957+164del	ENSP00000364979.4:n.957+162_957+164del
ENST00000543140.5:c.957+162_957+164del	ENSP00000443348.1:n.957+162_957+164del
NM_001303110.1:c.957+162_957+164del	NP_001290039.1:n.957+162_957+164del
NM_001845.5:c.957+162_957+164del	NP_001836.3:n.957+162_957+164del
XM_011521048.1:c.765+162_765+164del	XP_011519350.1:n.765+162_765+164del
XM_011521048.2:c.765+162_765+164del	XP_011519350.1:n.765+162_765+164del
NM_001845.6:c.957+162_957+164del MANE Select	NP_001836.3:n.957+162_957+164del
NM_001303110.2:c.957+162_957+164del	NP_001290039.1:n.957+162_957+164del