Canonical Allele Identifier: CA2575767407
Gene: SMAD6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703300del , CM000677.2:g.66703300del GRCh38
NC_000015.9:g.66995638del , CM000677.1:g.66995638del GRCh37
NC_000015.8:g.64782692del NCBI36
NG_012244.1:g.5965del
NG_012244.2:g.5965del

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.42del MANE Select ENSP00000288840.5:p.Trp14CysfsTer?
ENST00000288840.9:c.42del ENSP00000288840.5:p.Trp14CysfsTer?
ENST00000557916.5:c.42del ENSP00000452955.1:p.Trp14CysfsTer?
ENST00000612349.1:n.224del
NM_005585.4:c.42del NP_005576.3:p.Trp14CysfsTer?
NR_027654.1:n.965del
XR_931825.1:n.1201del
XR_931826.1:n.1201del
XR_931827.1:n.1201del
XR_931827.2:n.1191del
NM_005585.5:c.42del MANE Select NP_005576.3:p.Trp14CysfsTer?
NR_027654.2:n.1065del
Search 100 bp 5'
Search 100 bp 3'