Canonical Allele Identifier: CA2646651713
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062527-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062528del , CM000663.2:g.94062528del GRCh38
NC_000001.10:g.94528084del , CM000663.1:g.94528084del GRCh37
NC_000001.9:g.94300672del NCBI36
NG_009073.1:g.63622del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1937+49del MANE Select ENSP00000359245.3:n.1937+49del
ENST00000649773.1:c.1937+49del ENSP00000496882.1:n.1937+49del
ENST00000370225.3:c.1937+49del ENSP00000359245.3:n.1937+49del
ENST00000536513.5:c.-65+646del ENSP00000439707.2:n.-65+646del
NM_000350.2:c.1937+49del NP_000341.2:n.1937+49del
NM_000350.3:c.1937+49del MANE Select NP_000341.2:n.1937+49del
Search 100 bp 5'
Search 100 bp 3'