Canonical Allele Identifier: CA2744615614

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021466_94021467insACC , CM000663.2:g.94021466_94021467insACC	GRCh38
NC_000001.10:g.94487022_94487023insACC , CM000663.1:g.94487022_94487023insACC	GRCh37
NC_000001.9:g.94259610_94259611insACC	NCBI36
NG_009073.1:g.104683_104684insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-58_4849-57insGGT MANE Select	ENSP00000359245.3:n.4849-58_4849-57insGGT
ENST00000370225.3:c.4849-58_4849-57insGGT	ENSP00000359245.3:n.4849-58_4849-57insGGT
ENST00000460514.1:n.343-58_343-57insGGT
ENST00000536513.5:c.1225-58_1225-57insGGT	ENSP00000439707.2:n.1225-58_1225-57insGGT
NM_000350.2:c.4849-58_4849-57insGGT	NP_000341.2:n.4849-58_4849-57insGGT
NM_000350.3:c.4849-58_4849-57insGGT MANE Select	NP_000341.2:n.4849-58_4849-57insGGT