Canonical Allele Identifier: CA1181418840
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062665_94062666delinsGT , CM000663.2:g.94062665_94062666delinsGT GRCh38
NC_000001.10:g.94528221_94528222delinsGT , CM000663.1:g.94528221_94528222delinsGT GRCh37
NC_000001.9:g.94300809_94300810delinsGT NCBI36
NG_009073.1:g.63484_63485delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1848_1849delinsAC MANE Select ENSP00000359245.3:p.Glu616=
ENST00000649773.1:c.1848_1849delinsAC ENSP00000496882.1:p.Glu616=
ENST00000370225.3:c.1848_1849delinsAC ENSP00000359245.3:p.Glu616=
ENST00000536513.5:c.-65+508_-65+509delinsAC ENSP00000439707.2:n.-65+508_-65+509delinsAC
NM_000350.2:c.1848_1849delinsAC NP_000341.2:p.Glu616=
NM_000350.3:c.1848_1849delinsAC MANE Select NP_000341.2:p.Glu616=
Search 100 bp 5'
Search 100 bp 3'