Canonical Allele Identifier: CA2744617359

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041479_94041485del , CM000663.2:g.94041479_94041485del	GRCh38
NC_000001.10:g.94507035_94507041del , CM000663.1:g.94507035_94507041del	GRCh37
NC_000001.9:g.94279623_94279629del	NCBI36
NG_009073.1:g.84666_84672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-82_3329-76del MANE Select	ENSP00000359245.3:n.3329-82_3329-76del
ENST00000370225.3:c.3329-82_3329-76del	ENSP00000359245.3:n.3329-82_3329-76del
ENST00000536513.5:c.-64-1395_-64-1389del	ENSP00000439707.2:n.-64-1395_-64-1389del
NM_000350.2:c.3329-82_3329-76del	NP_000341.2:n.3329-82_3329-76del
NM_000350.3:c.3329-82_3329-76del MANE Select	NP_000341.2:n.3329-82_3329-76del