Canonical Allele Identifier: CA2744619289

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062824_94062825insACA , CM000663.2:g.94062824_94062825insACA	GRCh38
NC_000001.10:g.94528380_94528381insACA , CM000663.1:g.94528380_94528381insACA	GRCh37
NC_000001.9:g.94300968_94300969insACA	NCBI36
NG_009073.1:g.63325_63326insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-72_1761-71insTGT MANE Select	ENSP00000359245.3:n.1761-72_1761-71insTGT
ENST00000649773.1:c.1761-72_1761-71insTGT	ENSP00000496882.1:n.1761-72_1761-71insTGT
ENST00000370225.3:c.1761-72_1761-71insTGT	ENSP00000359245.3:n.1761-72_1761-71insTGT
ENST00000536513.5:c.-65+349_-65+350insTGT	ENSP00000439707.2:n.-65+349_-65+350insTGT
NM_000350.2:c.1761-72_1761-71insTGT	NP_000341.2:n.1761-72_1761-71insTGT
NM_000350.3:c.1761-72_1761-71insTGT MANE Select	NP_000341.2:n.1761-72_1761-71insTGT