Canonical Allele Identifier: CA2744617450

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041501_94041502insA , CM000663.2:g.94041501_94041502insA	GRCh38
NC_000001.10:g.94507057_94507058insA , CM000663.1:g.94507057_94507058insA	GRCh37
NC_000001.9:g.94279645_94279646insA	NCBI36
NG_009073.1:g.84648_84649insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-100_3329-99insT MANE Select	ENSP00000359245.3:n.3329-100_3329-99insT
ENST00000370225.3:c.3329-100_3329-99insT	ENSP00000359245.3:n.3329-100_3329-99insT
ENST00000536513.5:c.-64-1413_-64-1412insT	ENSP00000439707.2:n.-64-1413_-64-1412insT
NM_000350.2:c.3329-100_3329-99insT	NP_000341.2:n.3329-100_3329-99insT
NM_000350.3:c.3329-100_3329-99insT MANE Select	NP_000341.2:n.3329-100_3329-99insT