Canonical Allele Identifier: CA2646645983
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94010688-GAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010693_94010694del , CM000663.2:g.94010693_94010694del GRCh38
NC_000001.10:g.94476249_94476250del , CM000663.1:g.94476249_94476250del GRCh37
NC_000001.9:g.94248837_94248838del NCBI36
NG_009073.1:g.115460_115461del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+110_5714+111del MANE Select ENSP00000359245.3:n.5714+110_5714+111del
ENST00000370225.3:c.5714+110_5714+111del ENSP00000359245.3:n.5714+110_5714+111del
ENST00000465352.1:n.130+110_130+111del
ENST00000536513.5:c.2090+110_2090+111del ENSP00000439707.2:n.2090+110_2090+111del
NM_000350.2:c.5714+110_5714+111del NP_000341.2:n.5714+110_5714+111del
NM_000350.3:c.5714+110_5714+111del MANE Select NP_000341.2:n.5714+110_5714+111del
Search 100 bp 5'
Search 100 bp 3'