Canonical Allele Identifier: CA2744619152

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060849_94060850insGTC , CM000663.2:g.94060849_94060850insGTC	GRCh38
NC_000001.10:g.94526405_94526406insGTC , CM000663.1:g.94526405_94526406insGTC	GRCh37
NC_000001.9:g.94298993_94298994insGTC	NCBI36
NG_009073.1:g.65300_65301insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-91_1938-90insGAC MANE Select	ENSP00000359245.3:n.1938-91_1938-90insGAC
ENST00000649773.1:c.1938-91_1938-90insGAC	ENSP00000496882.1:n.1938-91_1938-90insGAC
ENST00000370225.3:c.1938-91_1938-90insGAC	ENSP00000359245.3:n.1938-91_1938-90insGAC
ENST00000472033.1:n.58-91_58-90insGAC
ENST00000536513.5:c.-65+2324_-65+2325insGAC	ENSP00000439707.2:n.-65+2324_-65+2325insGAC
NM_000350.2:c.1938-91_1938-90insGAC	NP_000341.2:n.1938-91_1938-90insGAC
NM_000350.3:c.1938-91_1938-90insGAC MANE Select	NP_000341.2:n.1938-91_1938-90insGAC