Canonical Allele Identifier: CA2629100911
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703260-T-TTGAAC
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703260_66703261insTGAAC , CM000677.2:g.66703260_66703261insTGAAC GRCh38
NC_000015.9:g.66995598_66995599insTGAAC , CM000677.1:g.66995598_66995599insTGAAC GRCh37
NC_000015.8:g.64782652_64782653insTGAAC NCBI36
NG_012244.1:g.5925_5926insTGAAC
NG_012244.2:g.5925_5926insTGAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.2_3insTGAAC MANE Select ENSP00000288840.5:p.Met1IlefsTer?
ENST00000288840.9:c.2_3insTGAAC ENSP00000288840.5:p.Met1IlefsTer?
ENST00000557916.5:c.2_3insTGAAC ENSP00000452955.1:p.Met1IlefsTer?
ENST00000612349.1:n.184_185insTGAAC
NM_005585.4:c.2_3insTGAAC NP_005576.3:p.Met1IlefsTer?
NR_027654.1:n.925_926insTGAAC
XR_931825.1:n.1161_1162insTGAAC
XR_931826.1:n.1161_1162insTGAAC
XR_931827.1:n.1161_1162insTGAAC
XR_931827.2:n.1151_1152insTGAAC
NM_005585.5:c.2_3insTGAAC MANE Select NP_005576.3:p.Met1IlefsTer?
NR_027654.2:n.1025_1026insTGAAC
Search 100 bp 5'
Search 100 bp 3'