Canonical Allele Identifier: CA2744615629

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021495_94021496insC , CM000663.2:g.94021495_94021496insC	GRCh38
NC_000001.10:g.94487051_94487052insC , CM000663.1:g.94487051_94487052insC	GRCh37
NC_000001.9:g.94259639_94259640insC	NCBI36
NG_009073.1:g.104654_104655insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-87_4849-86insG MANE Select	ENSP00000359245.3:n.4849-87_4849-86insG
ENST00000370225.3:c.4849-87_4849-86insG	ENSP00000359245.3:n.4849-87_4849-86insG
ENST00000460514.1:n.343-87_343-86insG
ENST00000536513.5:c.1225-87_1225-86insG	ENSP00000439707.2:n.1225-87_1225-86insG
NM_000350.2:c.4849-87_4849-86insG	NP_000341.2:n.4849-87_4849-86insG
NM_000350.3:c.4849-87_4849-86insG MANE Select	NP_000341.2:n.4849-87_4849-86insG