Canonical Allele Identifier: CA415116347
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs1557055273

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153743064_153743066del , CM000685.2:g.153743064_153743066del GRCh38
NC_000023.10:g.153008518_153008520del , CM000685.1:g.153008518_153008520del GRCh37
NC_000023.9:g.152661712_152661714del NCBI36
NG_009022.2:g.23197_23199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1858_1860del MANE Select ENSP00000218104.3:p.Tyr620del
ENST00000218104.5:c.1858_1860del ENSP00000218104.3:p.Tyr620del
NM_000033.3:c.1858_1860del NP_000024.2:p.Tyr620del
XR_938507.1:n.2330_2332del
XR_938507.2:n.2330_2332del
NM_000033.4:c.1858_1860del MANE Select NP_000024.2:p.Tyr620del