Canonical Allele Identifier: CA1181418869

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062761_94062763delinsGAC , CM000663.2:g.94062761_94062763delinsGAC	GRCh38
NC_000001.10:g.94528317_94528319delinsGAC , CM000663.1:g.94528317_94528319delinsGAC	GRCh37
NC_000001.9:g.94300905_94300907delinsGAC	NCBI36
NG_009073.1:g.63387_63389delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-10_1761-8delinsGTC MANE Select	ENSP00000359245.3:n.1761-10_1761-8delinsGTC
ENST00000649773.1:c.1761-10_1761-8delinsGTC	ENSP00000496882.1:n.1761-10_1761-8delinsGTC
ENST00000370225.3:c.1761-10_1761-8delinsGTC	ENSP00000359245.3:n.1761-10_1761-8delinsGTC
ENST00000536513.5:c.-65+411_-65+413delinsGTC	ENSP00000439707.2:n.-65+411_-65+413delinsGTC
NM_000350.2:c.1761-10_1761-8delinsGTC	NP_000341.2:n.1761-10_1761-8delinsGTC
NM_000350.3:c.1761-10_1761-8delinsGTC MANE Select	NP_000341.2:n.1761-10_1761-8delinsGTC