Canonical Allele Identifier: CA2744618980

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056933_94056934insA , CM000663.2:g.94056933_94056934insA	GRCh38
NC_000001.10:g.94522489_94522490insA , CM000663.1:g.94522489_94522490insA	GRCh37
NC_000001.9:g.94295077_94295078insA	NCBI36
NG_009073.1:g.69216_69217insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2161-112_2161-111insT MANE Select	ENSP00000359245.3:n.2161-112_2161-111insT
ENST00000649773.1:c.2161-1619_2161-1618insT	ENSP00000496882.1:n.2161-1619_2161-1618insT
ENST00000370225.3:c.2161-112_2161-111insT	ENSP00000359245.3:n.2161-112_2161-111insT
ENST00000536513.5:c.-65+6240_-65+6241insT	ENSP00000439707.2:n.-65+6240_-65+6241insT
NM_000350.2:c.2161-112_2161-111insT	NP_000341.2:n.2161-112_2161-111insT
NM_000350.3:c.2161-112_2161-111insT MANE Select	NP_000341.2:n.2161-112_2161-111insT