Canonical Allele Identifier: CA2744617546

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041552_94041553insAGA , CM000663.2:g.94041552_94041553insAGA	GRCh38
NC_000001.10:g.94507108_94507109insAGA , CM000663.1:g.94507108_94507109insAGA	GRCh37
NC_000001.9:g.94279696_94279697insAGA	NCBI36
NG_009073.1:g.84597_84598insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-151_3329-150insTCT MANE Select	ENSP00000359245.3:n.3329-151_3329-150insTCT
ENST00000370225.3:c.3329-151_3329-150insTCT	ENSP00000359245.3:n.3329-151_3329-150insTCT
ENST00000536513.5:c.-64-1464_-64-1463insTCT	ENSP00000439707.2:n.-64-1464_-64-1463insTCT
NM_000350.2:c.3329-151_3329-150insTCT	NP_000341.2:n.3329-151_3329-150insTCT
NM_000350.3:c.3329-151_3329-150insTCT MANE Select	NP_000341.2:n.3329-151_3329-150insTCT