Canonical Allele Identifier: CA2744619112

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060803_94060804insACTT , CM000663.2:g.94060803_94060804insACTT	GRCh38
NC_000001.10:g.94526359_94526360insACTT , CM000663.1:g.94526359_94526360insACTT	GRCh37
NC_000001.9:g.94298947_94298948insACTT	NCBI36
NG_009073.1:g.65346_65347insAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-45_1938-44insAAGT MANE Select	ENSP00000359245.3:n.1938-45_1938-44insAAGT
ENST00000649773.1:c.1938-45_1938-44insAAGT	ENSP00000496882.1:n.1938-45_1938-44insAAGT
ENST00000370225.3:c.1938-45_1938-44insAAGT	ENSP00000359245.3:n.1938-45_1938-44insAAGT
ENST00000472033.1:n.58-45_58-44insAAGT
ENST00000536513.5:c.-65+2370_-65+2371insAAGT	ENSP00000439707.2:n.-65+2370_-65+2371insAAGT
NM_000350.2:c.1938-45_1938-44insAAGT	NP_000341.2:n.1938-45_1938-44insAAGT
NM_000350.3:c.1938-45_1938-44insAAGT MANE Select	NP_000341.2:n.1938-45_1938-44insAAGT