Canonical Allele Identifier: CA2744617536

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041539_94041540insAG , CM000663.2:g.94041539_94041540insAG	GRCh38
NC_000001.10:g.94507095_94507096insAG , CM000663.1:g.94507095_94507096insAG	GRCh37
NC_000001.9:g.94279683_94279684insAG	NCBI36
NG_009073.1:g.84610_84611insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-138_3329-137insCT MANE Select	ENSP00000359245.3:n.3329-138_3329-137insCT
ENST00000370225.3:c.3329-138_3329-137insCT	ENSP00000359245.3:n.3329-138_3329-137insCT
ENST00000536513.5:c.-64-1451_-64-1450insCT	ENSP00000439707.2:n.-64-1451_-64-1450insCT
NM_000350.2:c.3329-138_3329-137insCT	NP_000341.2:n.3329-138_3329-137insCT
NM_000350.3:c.3329-138_3329-137insCT MANE Select	NP_000341.2:n.3329-138_3329-137insCT