Canonical Allele Identifier: CA2695197293
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630703
ClinVar RCV Id: RCV003402494
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703259_66703263del , CM000677.2:g.66703259_66703263del GRCh38
NC_000015.9:g.66995597_66995601del , CM000677.1:g.66995597_66995601del GRCh37
NC_000015.8:g.64782651_64782655del NCBI36
NG_012244.1:g.5924_5928del
NG_012244.2:g.5924_5928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1_5del MANE Select ENSP00000288840.5:p.Met1GlnfsTer?
ENST00000288840.9:c.1_5del ENSP00000288840.5:p.Met1GlnfsTer?
ENST00000612349.1:n.183_187del
NM_005585.4:c.1_5del NP_005576.3:p.Met1GlnfsTer?
NR_027654.1:n.924_928del
XR_931825.1:n.1160_1164del
XR_931826.1:n.1160_1164del
XR_931827.1:n.1160_1164del
XR_931827.2:n.1150_1154del
NM_005585.5:c.1_5del MANE Select NP_005576.3:p.Met1GlnfsTer?
NR_027654.2:n.1024_1028del
Search 100 bp 5'
Search 100 bp 3'