Canonical Allele Identifier: CA2744617875

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043590_94043612del , CM000663.2:g.94043590_94043612del	GRCh38
NC_000001.10:g.94509146_94509168del , CM000663.1:g.94509146_94509168del	GRCh37
NC_000001.9:g.94281734_94281756del	NCBI36
NG_009073.1:g.82538_82560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-137_3051-115del MANE Select	ENSP00000359245.3:n.3051-137_3051-115del
ENST00000370225.3:c.3051-137_3051-115del	ENSP00000359245.3:n.3051-137_3051-115del
ENST00000536513.5:c.-64-3523_-64-3501del	ENSP00000439707.2:n.-64-3523_-64-3501del
NM_000350.2:c.3051-137_3051-115del	NP_000341.2:n.3051-137_3051-115del
NM_000350.3:c.3051-137_3051-115del MANE Select	NP_000341.2:n.3051-137_3051-115del