Canonical Allele Identifier: CA2744619161

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060856_94060857insCCCCAAACACACCCAACA , CM000663.2:g.94060856_94060857insCCCCAAACACACCCAACA	GRCh38
NC_000001.10:g.94526412_94526413insCCCCAAACACACCCAACA , CM000663.1:g.94526412_94526413insCCCCAAACACACCCAACA	GRCh37
NC_000001.9:g.94299000_94299001insCCCCAAACACACCCAACA	NCBI36
NG_009073.1:g.65295_65296insTTGGGTGTGTTTGGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-96_1938-95insTTGGGTGTGTTTGGGGTG MANE Select	ENSP00000359245.3:n.1938-96_1938-95insTTGGGTGTGTTTGGGGTG
ENST00000649773.1:c.1938-96_1938-95insTTGGGTGTGTTTGGGGTG	ENSP00000496882.1:n.1938-96_1938-95insTTGGGTGTGTTTGGGGTG
ENST00000370225.3:c.1938-96_1938-95insTTGGGTGTGTTTGGGGTG	ENSP00000359245.3:n.1938-96_1938-95insTTGGGTGTGTTTGGGGTG
ENST00000472033.1:n.58-96_58-95insTTGGGTGTGTTTGGGGTG
ENST00000536513.5:c.-65+2319_-65+2320insTTGGGTGTGTTTGGGGTG	ENSP00000439707.2:n.-65+2319_-65+2320insTTGGGTGTGTTTGGGGTG
NM_000350.2:c.1938-96_1938-95insTTGGGTGTGTTTGGGGTG	NP_000341.2:n.1938-96_1938-95insTTGGGTGTGTTTGGGGTG
NM_000350.3:c.1938-96_1938-95insTTGGGTGTGTTTGGGGTG MANE Select	NP_000341.2:n.1938-96_1938-95insTTGGGTGTGTTTGGGGTG