Canonical Allele Identifier: CA2744619254

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062527_94062528insC , CM000663.2:g.94062527_94062528insC	GRCh38
NC_000001.10:g.94528083_94528084insC , CM000663.1:g.94528083_94528084insC	GRCh37
NC_000001.9:g.94300671_94300672insC	NCBI36
NG_009073.1:g.63622_63623insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+49_1937+50insG MANE Select	ENSP00000359245.3:n.1937+49_1937+50insG
ENST00000649773.1:c.1937+49_1937+50insG	ENSP00000496882.1:n.1937+49_1937+50insG
ENST00000370225.3:c.1937+49_1937+50insG	ENSP00000359245.3:n.1937+49_1937+50insG
ENST00000536513.5:c.-65+646_-65+647insG	ENSP00000439707.2:n.-65+646_-65+647insG
NM_000350.2:c.1937+49_1937+50insG	NP_000341.2:n.1937+49_1937+50insG
NM_000350.3:c.1937+49_1937+50insG MANE Select	NP_000341.2:n.1937+49_1937+50insG