Canonical Allele Identifier: CA2695236827
Gene: ABCD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153740189_153740193del , CM000685.2:g.153740189_153740193del GRCh38
NC_000023.10:g.153005643_153005647del , CM000685.1:g.153005643_153005647del GRCh37
NC_000023.9:g.152658837_152658841del NCBI36
NG_009022.2:g.20322_20326del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.1586_1590del MANE Select ENSP00000218104.3:p.Gly529AlafsTer25
ENST00000218104.5:c.1586_1590del ENSP00000218104.3:p.Gly529AlafsTer25
ENST00000443684.2:n.589_593del
NM_000033.3:c.1586_1590del NP_000024.2:p.Gly529AlafsTer25
XR_938507.1:n.2058_2062del
XR_938507.2:n.2058_2062del
NM_000033.4:c.1586_1590del MANE Select NP_000024.2:p.Gly529AlafsTer25