Canonical Allele Identifier: CA2744617309

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041458_94041459insACA , CM000663.2:g.94041458_94041459insACA	GRCh38
NC_000001.10:g.94507014_94507015insACA , CM000663.1:g.94507014_94507015insACA	GRCh37
NC_000001.9:g.94279602_94279603insACA	NCBI36
NG_009073.1:g.84691_84692insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-57_3329-56insTGT MANE Select	ENSP00000359245.3:n.3329-57_3329-56insTGT
ENST00000370225.3:c.3329-57_3329-56insTGT	ENSP00000359245.3:n.3329-57_3329-56insTGT
ENST00000536513.5:c.-64-1370_-64-1369insTGT	ENSP00000439707.2:n.-64-1370_-64-1369insTGT
NM_000350.2:c.3329-57_3329-56insTGT	NP_000341.2:n.3329-57_3329-56insTGT
NM_000350.3:c.3329-57_3329-56insTGT MANE Select	NP_000341.2:n.3329-57_3329-56insTGT