Canonical Allele Identifier: CA2744617425

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041492_94041493insACA , CM000663.2:g.94041492_94041493insACA	GRCh38
NC_000001.10:g.94507048_94507049insACA , CM000663.1:g.94507048_94507049insACA	GRCh37
NC_000001.9:g.94279636_94279637insACA	NCBI36
NG_009073.1:g.84657_84658insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-91_3329-90insTGT MANE Select	ENSP00000359245.3:n.3329-91_3329-90insTGT
ENST00000370225.3:c.3329-91_3329-90insTGT	ENSP00000359245.3:n.3329-91_3329-90insTGT
ENST00000536513.5:c.-64-1404_-64-1403insTGT	ENSP00000439707.2:n.-64-1404_-64-1403insTGT
NM_000350.2:c.3329-91_3329-90insTGT	NP_000341.2:n.3329-91_3329-90insTGT
NM_000350.3:c.3329-91_3329-90insTGT MANE Select	NP_000341.2:n.3329-91_3329-90insTGT