Canonical Allele Identifier: CA2744619258

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062786_94062787insACT , CM000663.2:g.94062786_94062787insACT	GRCh38
NC_000001.10:g.94528342_94528343insACT , CM000663.1:g.94528342_94528343insACT	GRCh37
NC_000001.9:g.94300930_94300931insACT	NCBI36
NG_009073.1:g.63363_63364insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-34_1761-33insAGT MANE Select	ENSP00000359245.3:n.1761-34_1761-33insAGT
ENST00000649773.1:c.1761-34_1761-33insAGT	ENSP00000496882.1:n.1761-34_1761-33insAGT
ENST00000370225.3:c.1761-34_1761-33insAGT	ENSP00000359245.3:n.1761-34_1761-33insAGT
ENST00000536513.5:c.-65+387_-65+388insAGT	ENSP00000439707.2:n.-65+387_-65+388insAGT
NM_000350.2:c.1761-34_1761-33insAGT	NP_000341.2:n.1761-34_1761-33insAGT
NM_000350.3:c.1761-34_1761-33insAGT MANE Select	NP_000341.2:n.1761-34_1761-33insAGT