Canonical Allele Identifier: CA2695237380
Gene: ABCD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725689_153725697dup , CM000685.2:g.153725689_153725697dup GRCh38
NC_000023.10:g.152991144_152991152dup , CM000685.1:g.152991144_152991152dup GRCh37
NC_000023.9:g.152644338_152644346dup NCBI36
NG_009022.2:g.5822_5830dup
NG_023231.1:g.4052_4060dup

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.423_431dup MANE Select ENSP00000218104.3:p.Ala144_Thr145insLeuPr...
ENST00000218104.5:c.423_431dup ENSP00000218104.3:p.Ala144_Thr145insLeuPr...
NM_000033.3:c.423_431dup NP_000024.2:p.Ala144_Thr145insLeuProAla
XR_938507.1:n.839_847dup
XR_938507.2:n.839_847dup
NM_000033.4:c.423_431dup MANE Select NP_000024.2:p.Ala144_Thr145insLeuProAla
Search 100 bp 5'
Search 100 bp 3'