Canonical Allele Identifier: CA2646651309

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94060759-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060760_94060761del , CM000663.2:g.94060760_94060761del	GRCh38
NC_000001.10:g.94526316_94526317del , CM000663.1:g.94526316_94526317del	GRCh37
NC_000001.9:g.94298904_94298905del	NCBI36
NG_009073.1:g.65389_65390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-2_1938-1del MANE Select	ENSP00000359245.3:n.1938-2_1938-1del
ENST00000649773.1:c.1938-2_1938-1del	ENSP00000496882.1:n.1938-2_1938-1del
ENST00000370225.3:c.1938-2_1938-1del	ENSP00000359245.3:n.1938-2_1938-1del
ENST00000472033.1:n.58-2_58-1del
ENST00000536513.5:c.-65+2413_-65+2414del	ENSP00000439707.2:n.-65+2413_-65+2414del
NM_000350.2:c.1938-2_1938-1del	NP_000341.2:n.1938-2_1938-1del
NM_000350.3:c.1938-2_1938-1del MANE Select	NP_000341.2:n.1938-2_1938-1del