Canonical Allele Identifier: CA2744617525

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041528_94041529insC , CM000663.2:g.94041528_94041529insC	GRCh38
NC_000001.10:g.94507084_94507085insC , CM000663.1:g.94507084_94507085insC	GRCh37
NC_000001.9:g.94279672_94279673insC	NCBI36
NG_009073.1:g.84621_84622insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-127_3329-126insG MANE Select	ENSP00000359245.3:n.3329-127_3329-126insG
ENST00000370225.3:c.3329-127_3329-126insG	ENSP00000359245.3:n.3329-127_3329-126insG
ENST00000536513.5:c.-64-1440_-64-1439insG	ENSP00000439707.2:n.-64-1440_-64-1439insG
NM_000350.2:c.3329-127_3329-126insG	NP_000341.2:n.3329-127_3329-126insG
NM_000350.3:c.3329-127_3329-126insG MANE Select	NP_000341.2:n.3329-127_3329-126insG