Canonical Allele Identifier: CA1181397691
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001035_94001036delinsCT , CM000663.2:g.94001035_94001036delinsCT GRCh38
NC_000001.10:g.94466591_94466592delinsCT , CM000663.1:g.94466591_94466592delinsCT GRCh37
NC_000001.9:g.94239179_94239180delinsCT NCBI36
NG_009073.1:g.125114_125115delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6352_6353delinsAG MANE Select ENSP00000359245.3:p.Arg2118=
ENST00000370225.3:c.6352_6353delinsAG ENSP00000359245.3:p.Arg2118=
ENST00000536513.5:c.2728_2729delinsAG ENSP00000439707.2:p.Arg910=
NM_000350.2:c.6352_6353delinsAG NP_000341.2:p.Arg2118=
NM_000350.3:c.6352_6353delinsAG MANE Select NP_000341.2:p.Arg2118=
Search 100 bp 5'
Search 100 bp 3'