Canonical Allele Identifier: CA2744619347

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062893_94063004del , CM000663.2:g.94062893_94063004del	GRCh38
NC_000001.10:g.94528449_94528560del , CM000663.1:g.94528449_94528560del	GRCh37
NC_000001.9:g.94301037_94301148del	NCBI36
NG_009073.1:g.63148_63259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1760+110_1761-138del MANE Select	ENSP00000359245.3:n.1760+110_1761-138del
ENST00000649773.1:c.1760+110_1761-138del	ENSP00000496882.1:n.1760+110_1761-138del
ENST00000370225.3:c.1760+110_1761-138del	ENSP00000359245.3:n.1760+110_1761-138del
ENST00000536513.5:c.-65+172_-65+283del	ENSP00000439707.2:n.-65+172_-65+283del
NM_000350.2:c.1760+110_1761-138del	NP_000341.2:n.1760+110_1761-138del
NM_000350.3:c.1760+110_1761-138del MANE Select	NP_000341.2:n.1760+110_1761-138del