Canonical Allele Identifier: CA2646650035
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94046946-T-TGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046947_94046949dup , CM000663.2:g.94046947_94046949dup GRCh38
NC_000001.10:g.94512503_94512505dup , CM000663.1:g.94512503_94512505dup GRCh37
NC_000001.9:g.94285091_94285093dup NCBI36
NG_009073.1:g.79201_79203dup

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2888_2890dup MANE Select ENSP00000359245.3:p.Gly963_His964insArg
ENST00000649773.1:c.2666_2668dup ENSP00000496882.1:p.Gly889_His890insArg
ENST00000370225.3:c.2888_2890dup ENSP00000359245.3:p.Gly963_His964insArg
ENST00000536513.5:c.-64-6860_-64-6858dup ENSP00000439707.2:n.-64-6860_-64-6858dup
NM_000350.2:c.2888_2890dup NP_000341.2:p.Gly963_His964insArg
NM_000350.3:c.2888_2890dup MANE Select NP_000341.2:p.Gly963_His964insArg
Search 100 bp 5'
Search 100 bp 3'