Canonical Allele Identifier: CA1181426489
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660993133
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056700_94056702dup , CM000663.2:g.94056700_94056702dup GRCh38
NC_000001.10:g.94522256_94522258dup , CM000663.1:g.94522256_94522258dup GRCh37
NC_000001.9:g.94294844_94294846dup NCBI36
NG_009073.1:g.69453_69455dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2286_2288dup MANE Select ENSP00000359245.3:p.Ala763_Cys764insAla
ENST00000649773.1:c.2161-1382_2161-1380dup ENSP00000496882.1:n.2161-1382_2161-1380dup
ENST00000370225.3:c.2286_2288dup ENSP00000359245.3:p.Ala763_Cys764insAla
ENST00000536513.5:c.-65+6477_-65+6479dup ENSP00000439707.2:n.-65+6477_-65+6479dup
NM_000350.2:c.2286_2288dup NP_000341.2:p.Ala763_Cys764insAla
NM_000350.3:c.2286_2288dup MANE Select NP_000341.2:p.Ala763_Cys764insAla
Search 100 bp 5'
Search 100 bp 3'