Canonical Allele Identifier: CA916084013
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 835723
ClinVar RCV Id: RCV001036673
dbSNP Id: rs2091764754
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740680_153740694del , CM000685.2:g.153740680_153740694del GRCh38
NC_000023.10:g.153006134_153006148del , CM000685.1:g.153006134_153006148del GRCh37
NC_000023.9:g.152659328_152659342del NCBI36
NG_009022.2:g.20813_20827del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1741_1755del MANE Select ENSP00000218104.3:p.Asp581_Leu585del
ENST00000218104.5:c.1741_1755del ENSP00000218104.3:p.Asp581_Leu585del
NM_000033.3:c.1741_1755del NP_000024.2:p.Asp581_Leu585del
XR_938507.1:n.2213_2227del
XR_938507.2:n.2213_2227del
NM_000033.4:c.1741_1755del MANE Select NP_000024.2:p.Asp581_Leu585del
Search 100 bp 5'
Search 100 bp 3'