Canonical Allele Identifier: CA2744619146

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060842_94060843insACA , CM000663.2:g.94060842_94060843insACA	GRCh38
NC_000001.10:g.94526398_94526399insACA , CM000663.1:g.94526398_94526399insACA	GRCh37
NC_000001.9:g.94298986_94298987insACA	NCBI36
NG_009073.1:g.65307_65308insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-84_1938-83insTGT MANE Select	ENSP00000359245.3:n.1938-84_1938-83insTGT
ENST00000649773.1:c.1938-84_1938-83insTGT	ENSP00000496882.1:n.1938-84_1938-83insTGT
ENST00000370225.3:c.1938-84_1938-83insTGT	ENSP00000359245.3:n.1938-84_1938-83insTGT
ENST00000472033.1:n.58-84_58-83insTGT
ENST00000536513.5:c.-65+2331_-65+2332insTGT	ENSP00000439707.2:n.-65+2331_-65+2332insTGT
NM_000350.2:c.1938-84_1938-83insTGT	NP_000341.2:n.1938-84_1938-83insTGT
NM_000350.3:c.1938-84_1938-83insTGT MANE Select	NP_000341.2:n.1938-84_1938-83insTGT