Canonical Allele Identifier: CA2499226448
Community Standard Title: NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)
Gene: ABCD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153726152_153726153delinsAG , CM000685.2:g.153726152_153726153delinsAG GRCh38
NC_000023.10:g.152991607_152991608delinsAG , CM000685.1:g.152991607_152991608delinsAG GRCh37
NC_000023.9:g.152644801_152644802delinsAG NCBI36
NG_009022.2:g.6285_6286delinsAG
NG_023231.1:g.3594_3595delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000033.4:c.886_887delinsAG MANE Select NP_000024.2:p.Tyr296Ser
ENST00000218104.6:c.886_887delinsAG MANE Select ENSP00000218104.3:p.Tyr296Ser
NM_000033.3:c.886_887delinsAG NP_000024.2:p.Tyr296Ser
ENST00000218104.5:c.886_887delinsAG ENSP00000218104.3:p.Tyr296Ser
ENST00000370129.4:c.331_332delinsAG ENSP00000359147.3:p.Tyr111Ser
XR_938507.1:n.1302_1303delinsAG
XR_938507.2:n.1302_1303delinsAG
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