Canonical Allele Identifier: CA2744617554

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041577_94041578del , CM000663.2:g.94041577_94041578del	GRCh38
NC_000001.10:g.94507133_94507134del , CM000663.1:g.94507133_94507134del	GRCh37
NC_000001.9:g.94279721_94279722del	NCBI36
NG_009073.1:g.84572_84573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-176_3329-175del MANE Select	ENSP00000359245.3:n.3329-176_3329-175del
ENST00000370225.3:c.3329-176_3329-175del	ENSP00000359245.3:n.3329-176_3329-175del
ENST00000536513.5:c.-64-1489_-64-1488del	ENSP00000439707.2:n.-64-1489_-64-1488del
NM_000350.2:c.3329-176_3329-175del	NP_000341.2:n.3329-176_3329-175del
NM_000350.3:c.3329-176_3329-175del MANE Select	NP_000341.2:n.3329-176_3329-175del