Canonical Allele Identifier: CA2499226455
Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11309
ClinVar RCV Id: RCV000012061
dbSNP Id: rs2148398995
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153742998_153742999del , CM000685.2:g.153742998_153742999del GRCh38
NC_000023.10:g.153008452_153008453del , CM000685.1:g.153008452_153008453del GRCh37
NC_000023.9:g.152661646_152661647del NCBI36
NG_009022.2:g.23131_23132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1792_1793del MANE Select ENSP00000218104.3:p.Met598ValfsTer2
ENST00000218104.5:c.1792_1793del ENSP00000218104.3:p.Met598ValfsTer2
NM_000033.3:c.1792_1793del NP_000024.2:p.Met598ValfsTer2
XR_938507.1:n.2264_2265del
XR_938507.2:n.2264_2265del
NM_000033.4:c.1792_1793del MANE Select NP_000024.2:p.Met598ValfsTer2
Search 100 bp 5'
Search 100 bp 3'