Canonical Allele Identifier: CA2646649302

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94030570-CCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030573_94030575del , CM000663.2:g.94030573_94030575del	GRCh38
NC_000001.10:g.94496129_94496131del , CM000663.1:g.94496129_94496131del	GRCh37
NC_000001.9:g.94268717_94268719del	NCBI36
NG_009073.1:g.95577_95579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-47_4254-45del MANE Select	ENSP00000359245.3:n.4254-47_4254-45del
ENST00000370225.3:c.4254-47_4254-45del	ENSP00000359245.3:n.4254-47_4254-45del
ENST00000536513.5:c.630-47_630-45del	ENSP00000439707.2:n.630-47_630-45del
NM_000350.2:c.4254-47_4254-45del	NP_000341.2:n.4254-47_4254-45del
NM_000350.3:c.4254-47_4254-45del MANE Select	NP_000341.2:n.4254-47_4254-45del