Canonical Allele Identifier: CA2695046568
Gene: ABCD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740858_153740860del , CM000685.2:g.153740858_153740860del GRCh38
NC_000023.10:g.153006312_153006314del , CM000685.1:g.153006312_153006314del GRCh37
NC_000023.9:g.152659506_152659508del NCBI36
NG_009022.2:g.20991_20993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1780+139_1780+141del MANE Select ENSP00000218104.3:n.1780+139_1780+141del
ENST00000218104.5:c.1780+139_1780+141del ENSP00000218104.3:n.1780+139_1780+141del
NM_000033.3:c.1780+139_1780+141del NP_000024.2:n.1780+139_1780+141del
XR_938507.1:n.2252+139_2252+141del
XR_938507.2:n.2252+139_2252+141del
NM_000033.4:c.1780+139_1780+141del MANE Select NP_000024.2:n.1780+139_1780+141del