Canonical Allele Identifier: CA2466455054
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153736201_153736205delinsCTCCT , CM000685.2:g.153736201_153736205delinsCTCCT GRCh38
NC_000023.10:g.153001655_153001659delinsCTCCT , CM000685.1:g.153001655_153001659delinsCTCCT GRCh37
NC_000023.9:g.152654849_152654853delinsCTCCT NCBI36
NG_009022.2:g.16334_16338delinsCTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000218104.6:c.1171_1175delinsCTCCT MANE Select ENSP00000218104.3:p.Leu391=
ENST00000218104.5:c.1171_1175delinsCTCCT ENSP00000218104.3:p.Leu391=
ENST00000443684.2:n.174_178delinsCTCCT
NM_000033.3:c.1171_1175delinsCTCCT NP_000024.2:p.Leu391=
XR_938507.1:n.1587_1591delinsCTCCT
XR_938507.2:n.1587_1591delinsCTCCT
NM_000033.4:c.1171_1175delinsCTCCT MANE Select NP_000024.2:p.Leu391=
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