Canonical Allele Identifier: CA2695236852

Gene: ABCD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153743263_153743281del , CM000685.2:g.153743263_153743281del	GRCh38
NC_000023.10:g.153008717_153008735del , CM000685.1:g.153008717_153008735del	GRCh37
NC_000023.9:g.152661911_152661929del	NCBI36
NG_009022.2:g.23396_23414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218104.6:c.1908_1926del MANE Select	ENSP00000218104.3:p.Ser636ArgfsTer?
ENST00000218104.5:c.1908_1926del	ENSP00000218104.3:p.Ser636ArgfsTer?
NM_000033.3:c.1908_1926del	NP_000024.2:p.Ser636ArgfsTer?
XR_938507.1:n.2380_2398del
XR_938507.2:n.2380_2398del
NM_000033.4:c.1908_1926del MANE Select	NP_000024.2:p.Ser636ArgfsTer?