Canonical Allele Identifier: CA2629100914
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703268-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703270del , CM000677.2:g.66703270del GRCh38
NC_000015.9:g.66995608del , CM000677.1:g.66995608del GRCh37
NC_000015.8:g.64782662del NCBI36
NG_012244.1:g.5935del
NG_012244.2:g.5935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.12del MANE Select ENSP00000288840.5:p.Lys5AsnfsTer?
ENST00000288840.9:c.12del ENSP00000288840.5:p.Lys5AsnfsTer?
ENST00000557916.5:c.12del ENSP00000452955.1:p.Lys5AsnfsTer?
ENST00000612349.1:n.194del
NM_005585.4:c.12del NP_005576.3:p.Lys5AsnfsTer?
NR_027654.1:n.935del
XR_931825.1:n.1171del
XR_931826.1:n.1171del
XR_931827.1:n.1171del
XR_931827.2:n.1161del
NM_005585.5:c.12del MANE Select NP_005576.3:p.Lys5AsnfsTer?
NR_027654.2:n.1035del
Search 100 bp 5'
Search 100 bp 3'