Canonical Allele Identifier: CA2744619299

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062830_94062831insAGT , CM000663.2:g.94062830_94062831insAGT	GRCh38
NC_000001.10:g.94528386_94528387insAGT , CM000663.1:g.94528386_94528387insAGT	GRCh37
NC_000001.9:g.94300974_94300975insAGT	NCBI36
NG_009073.1:g.63319_63320insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-78_1761-77insACT MANE Select	ENSP00000359245.3:n.1761-78_1761-77insACT
ENST00000649773.1:c.1761-78_1761-77insACT	ENSP00000496882.1:n.1761-78_1761-77insACT
ENST00000370225.3:c.1761-78_1761-77insACT	ENSP00000359245.3:n.1761-78_1761-77insACT
ENST00000536513.5:c.-65+343_-65+344insACT	ENSP00000439707.2:n.-65+343_-65+344insACT
NM_000350.2:c.1761-78_1761-77insACT	NP_000341.2:n.1761-78_1761-77insACT
NM_000350.3:c.1761-78_1761-77insACT MANE Select	NP_000341.2:n.1761-78_1761-77insACT