Canonical Allele Identifier: CA2744618842

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056433_94056437del , CM000663.2:g.94056433_94056437del	GRCh38
NC_000001.10:g.94521989_94521993del , CM000663.1:g.94521989_94521993del	GRCh37
NC_000001.9:g.94294577_94294581del	NCBI36
NG_009073.1:g.69713_69717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+164_2382+168del MANE Select	ENSP00000359245.3:n.2382+164_2382+168del
ENST00000649773.1:c.2161-1122_2161-1118del	ENSP00000496882.1:n.2161-1122_2161-1118del
ENST00000370225.3:c.2382+164_2382+168del	ENSP00000359245.3:n.2382+164_2382+168del
ENST00000536513.5:c.-65+6737_-65+6741del	ENSP00000439707.2:n.-65+6737_-65+6741del
NM_000350.2:c.2382+164_2382+168del	NP_000341.2:n.2382+164_2382+168del
NM_000350.3:c.2382+164_2382+168del MANE Select	NP_000341.2:n.2382+164_2382+168del