Canonical Allele Identifier: CA2744619311

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062840_94062841insAGA , CM000663.2:g.94062840_94062841insAGA	GRCh38
NC_000001.10:g.94528396_94528397insAGA , CM000663.1:g.94528396_94528397insAGA	GRCh37
NC_000001.9:g.94300984_94300985insAGA	NCBI36
NG_009073.1:g.63309_63310insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-88_1761-87insTCT MANE Select	ENSP00000359245.3:n.1761-88_1761-87insTCT
ENST00000649773.1:c.1761-88_1761-87insTCT	ENSP00000496882.1:n.1761-88_1761-87insTCT
ENST00000370225.3:c.1761-88_1761-87insTCT	ENSP00000359245.3:n.1761-88_1761-87insTCT
ENST00000536513.5:c.-65+333_-65+334insTCT	ENSP00000439707.2:n.-65+333_-65+334insTCT
NM_000350.2:c.1761-88_1761-87insTCT	NP_000341.2:n.1761-88_1761-87insTCT
NM_000350.3:c.1761-88_1761-87insTCT MANE Select	NP_000341.2:n.1761-88_1761-87insTCT