Canonical Allele Identifier: CA2646647403

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94021562-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021563_94021564del , CM000663.2:g.94021563_94021564del	GRCh38
NC_000001.10:g.94487119_94487120del , CM000663.1:g.94487119_94487120del	GRCh37
NC_000001.9:g.94259707_94259708del	NCBI36
NG_009073.1:g.104586_104587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+76_4848+77del MANE Select	ENSP00000359245.3:n.4848+76_4848+77del
ENST00000370225.3:c.4848+76_4848+77del	ENSP00000359245.3:n.4848+76_4848+77del
ENST00000460514.1:n.342+76_342+77del
ENST00000536513.5:c.1224+76_1224+77del	ENSP00000439707.2:n.1224+76_1224+77del
NM_000350.2:c.4848+76_4848+77del	NP_000341.2:n.4848+76_4848+77del
NM_000350.3:c.4848+76_4848+77del MANE Select	NP_000341.2:n.4848+76_4848+77del