Canonical Allele Identifier: CA2739242262
Gene: ABCD1 HGNC NCBI

Linked Data

dbSNP Id: rs2148397599
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740174_153740197dup , CM000685.2:g.153740174_153740197dup GRCh38
NC_000023.10:g.153005628_153005651dup , CM000685.1:g.153005628_153005651dup GRCh37
NC_000023.9:g.152658822_152658845dup NCBI36
NG_009022.2:g.20307_20330dup

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1571_1594dup MANE Select ENSP00000218104.3:p.Leu531_Tyr532insTrpPr...
ENST00000218104.5:c.1571_1594dup ENSP00000218104.3:p.Leu531_Tyr532insTrpPr...
ENST00000443684.2:n.574_597dup
NM_000033.3:c.1571_1594dup NP_000024.2:p.Leu531_Tyr532insTrpProThrTy...
XR_938507.1:n.2043_2066dup
XR_938507.2:n.2043_2066dup
NM_000033.4:c.1571_1594dup MANE Select NP_000024.2:p.Leu531_Tyr532insTrpProThrTy...
Search 100 bp 5'
Search 100 bp 3'