Canonical Allele Identifier: CA2744619297

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062830_94063072del , CM000663.2:g.94062830_94063072del	GRCh38
NC_000001.10:g.94528386_94528628del , CM000663.1:g.94528386_94528628del	GRCh37
NC_000001.9:g.94300974_94301216del	NCBI36
NG_009073.1:g.63078_63320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1760+40_1761-77del MANE Select	ENSP00000359245.3:n.1760+40_1761-77del
ENST00000649773.1:c.1760+40_1761-77del	ENSP00000496882.1:n.1760+40_1761-77del
ENST00000370225.3:c.1760+40_1761-77del	ENSP00000359245.3:n.1760+40_1761-77del
ENST00000536513.5:c.-65+102_-65+344del	ENSP00000439707.2:n.-65+102_-65+344del
NM_000350.2:c.1760+40_1761-77del	NP_000341.2:n.1760+40_1761-77del
NM_000350.3:c.1760+40_1761-77del MANE Select	NP_000341.2:n.1760+40_1761-77del