Canonical Allele Identifier: CA2744619275

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062809_94062810insTA , CM000663.2:g.94062809_94062810insTA	GRCh38
NC_000001.10:g.94528365_94528366insTA , CM000663.1:g.94528365_94528366insTA	GRCh37
NC_000001.9:g.94300953_94300954insTA	NCBI36
NG_009073.1:g.63340_63341insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-57_1761-56insTA MANE Select	ENSP00000359245.3:n.1761-57_1761-56insTA
ENST00000649773.1:c.1761-57_1761-56insTA	ENSP00000496882.1:n.1761-57_1761-56insTA
ENST00000370225.3:c.1761-57_1761-56insTA	ENSP00000359245.3:n.1761-57_1761-56insTA
ENST00000536513.5:c.-65+364_-65+365insTA	ENSP00000439707.2:n.-65+364_-65+365insTA
NM_000350.2:c.1761-57_1761-56insTA	NP_000341.2:n.1761-57_1761-56insTA
NM_000350.3:c.1761-57_1761-56insTA MANE Select	NP_000341.2:n.1761-57_1761-56insTA