Canonical Allele Identifier: CA2744619177

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060878_94060879del , CM000663.2:g.94060878_94060879del	GRCh38
NC_000001.10:g.94526434_94526435del , CM000663.1:g.94526434_94526435del	GRCh37
NC_000001.9:g.94299022_94299023del	NCBI36
NG_009073.1:g.65271_65272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-120_1938-119del MANE Select	ENSP00000359245.3:n.1938-120_1938-119del
ENST00000649773.1:c.1938-120_1938-119del	ENSP00000496882.1:n.1938-120_1938-119del
ENST00000370225.3:c.1938-120_1938-119del	ENSP00000359245.3:n.1938-120_1938-119del
ENST00000472033.1:n.58-120_58-119del
ENST00000536513.5:c.-65+2295_-65+2296del	ENSP00000439707.2:n.-65+2295_-65+2296del
NM_000350.2:c.1938-120_1938-119del	NP_000341.2:n.1938-120_1938-119del
NM_000350.3:c.1938-120_1938-119del MANE Select	NP_000341.2:n.1938-120_1938-119del