Canonical Allele Identifier: CA2695237421
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153725796_153725797del , CM000685.2:g.153725796_153725797del GRCh38
NC_000023.10:g.152991251_152991252del , CM000685.1:g.152991251_152991252del GRCh37
NC_000023.9:g.152644445_152644446del NCBI36
NG_009022.2:g.5929_5930del
NG_023231.1:g.3950_3951del

Transcript Alleles

HGVS Amino-acid change
ENST00000218104.6:c.530_531del MANE Select ENSP00000218104.3:p.Gln177ProfsTer17
ENST00000218104.5:c.530_531del ENSP00000218104.3:p.Gln177ProfsTer17
NM_000033.3:c.530_531del NP_000024.2:p.Gln177ProfsTer17
XR_938507.1:n.946_947del
XR_938507.2:n.946_947del
NM_000033.4:c.530_531del MANE Select NP_000024.2:p.Gln177ProfsTer17
Search 100 bp 5'
Search 100 bp 3'