Canonical Allele Identifier: CA2629100922
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703298-T-TG
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.42dup MANE Select ENSP00000288840.5:p.Arg15AlafsTer30
ENST00000288840.9:c.42dup ENSP00000288840.5:p.Arg15AlafsTer30
ENST00000557916.5:c.42dup ENSP00000452955.1:p.Arg15AlafsTer30
ENST00000612349.1:n.224dup
NM_005585.4:c.42dup NP_005576.3:p.Arg15AlafsTer30
NR_027654.1:n.965dup
XR_931825.1:n.1201dup
XR_931826.1:n.1201dup
XR_931827.1:n.1201dup
XR_931827.2:n.1191dup
NM_005585.5:c.42dup MANE Select NP_005576.3:p.Arg15AlafsTer30
NR_027654.2:n.1065dup
Search 100 bp 5'
Search 100 bp 3'