Canonical Allele Identifier: CA2744617681

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94042970_94042971del , CM000663.2:g.94042970_94042971del	GRCh38
NC_000001.10:g.94508526_94508527del , CM000663.1:g.94508526_94508527del	GRCh37
NC_000001.9:g.94281114_94281115del	NCBI36
NG_009073.1:g.83179_83180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3191-73_3191-72del MANE Select	ENSP00000359245.3:n.3191-73_3191-72del
ENST00000370225.3:c.3191-73_3191-72del	ENSP00000359245.3:n.3191-73_3191-72del
ENST00000536513.5:c.-64-2882_-64-2881del	ENSP00000439707.2:n.-64-2882_-64-2881del
NM_000350.2:c.3191-73_3191-72del	NP_000341.2:n.3191-73_3191-72del
NM_000350.3:c.3191-73_3191-72del MANE Select	NP_000341.2:n.3191-73_3191-72del