Canonical Allele Identifier: CA2744617849

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043537_94043538insAG , CM000663.2:g.94043537_94043538insAG	GRCh38
NC_000001.10:g.94509093_94509094insAG , CM000663.1:g.94509093_94509094insAG	GRCh37
NC_000001.9:g.94281681_94281682insAG	NCBI36
NG_009073.1:g.82612_82613insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-63_3051-62insCT MANE Select	ENSP00000359245.3:n.3051-63_3051-62insCT
ENST00000370225.3:c.3051-63_3051-62insCT	ENSP00000359245.3:n.3051-63_3051-62insCT
ENST00000536513.5:c.-64-3449_-64-3448insCT	ENSP00000439707.2:n.-64-3449_-64-3448insCT
NM_000350.2:c.3051-63_3051-62insCT	NP_000341.2:n.3051-63_3051-62insCT
NM_000350.3:c.3051-63_3051-62insCT MANE Select	NP_000341.2:n.3051-63_3051-62insCT