Canonical Allele Identifier: CA2744614007

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001707del , CM000663.2:g.94001707del	GRCh38
NC_000001.10:g.94467263del , CM000663.1:g.94467263del	GRCh37
NC_000001.9:g.94239851del	NCBI36
NG_009073.1:g.124443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6282+151del MANE Select	ENSP00000359245.3:n.6282+151del
ENST00000370225.3:c.6282+151del	ENSP00000359245.3:n.6282+151del
ENST00000465352.1:n.849del
ENST00000536513.5:c.2658+151del	ENSP00000439707.2:n.2658+151del
NM_000350.2:c.6282+151del	NP_000341.2:n.6282+151del
NM_000350.3:c.6282+151del MANE Select	NP_000341.2:n.6282+151del