Canonical Allele Identifier: CA2629100929
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703326-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703328del , CM000677.2:g.66703328del GRCh38
NC_000015.9:g.66995666del , CM000677.1:g.66995666del GRCh37
NC_000015.8:g.64782720del NCBI36
NG_012244.1:g.5993del
NG_012244.2:g.5993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.70del MANE Select ENSP00000288840.5:p.Glu24LysfsTer?
ENST00000288840.9:c.70del ENSP00000288840.5:p.Glu24LysfsTer?
ENST00000557916.5:c.70del ENSP00000452955.1:p.Glu24LysfsTer?
ENST00000612349.1:n.252del
NM_005585.4:c.70del NP_005576.3:p.Glu24LysfsTer?
NR_027654.1:n.993del
XR_931825.1:n.1229del
XR_931826.1:n.1229del
XR_931827.1:n.1229del
XR_931827.2:n.1219del
NM_005585.5:c.70del MANE Select NP_005576.3:p.Glu24LysfsTer?
NR_027654.2:n.1093del
Search 100 bp 5'
Search 100 bp 3'