Canonical Allele Identifier: CA1181407992

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021065_94021072delinsAGGTCTGG , CM000663.2:g.94021065_94021072delinsAGGTCTGG	GRCh38
NC_000001.10:g.94486621_94486628delinsAGGTCTGG , CM000663.1:g.94486621_94486628delinsAGGTCTGG	GRCh37
NC_000001.9:g.94259209_94259216delinsAGGTCTGG	NCBI36
NG_009073.1:g.105078_105085delinsCCAGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5018+168_5018+175delinsCCAGACCT MANE Select	ENSP00000359245.3:n.5018+168_5018+175delinsCCAGACCT
ENST00000370225.3:c.5018+168_5018+175delinsCCAGACCT	ENSP00000359245.3:n.5018+168_5018+175delinsCCAGACCT
ENST00000460514.1:n.512+168_512+175delinsCCAGACCT
ENST00000470771.1:n.128+168_128+175delinsCCAGACCT
ENST00000536513.5:c.1394+168_1394+175delinsCCAGACCT	ENSP00000439707.2:n.1394+168_1394+175delinsCCAGACCT
NM_000350.2:c.5018+168_5018+175delinsCCAGACCT	NP_000341.2:n.5018+168_5018+175delinsCCAGACCT
NM_000350.3:c.5018+168_5018+175delinsCCAGACCT MANE Select	NP_000341.2:n.5018+168_5018+175delinsCCAGACCT