Canonical Allele Identifier: CA1181407238
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010696_94010697delinsAT , CM000663.2:g.94010696_94010697delinsAT GRCh38
NC_000001.10:g.94476252_94476253delinsAT , CM000663.1:g.94476252_94476253delinsAT GRCh37
NC_000001.9:g.94248840_94248841delinsAT NCBI36
NG_009073.1:g.115453_115454delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+103_5714+104delinsAT MANE Select ENSP00000359245.3:n.5714+103_5714+104delinsAT
ENST00000370225.3:c.5714+103_5714+104delinsAT ENSP00000359245.3:n.5714+103_5714+104delinsAT
ENST00000465352.1:n.130+103_130+104delinsAT
ENST00000536513.5:c.2090+103_2090+104delinsAT ENSP00000439707.2:n.2090+103_2090+104delinsAT
NM_000350.2:c.5714+103_5714+104delinsAT NP_000341.2:n.5714+103_5714+104delinsAT
NM_000350.3:c.5714+103_5714+104delinsAT MANE Select NP_000341.2:n.5714+103_5714+104delinsAT
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