Canonical Allele Identifier: CA2629105670
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66780902-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66780905del , CM000677.2:g.66780905del GRCh38
NC_000015.9:g.67073243del , CM000677.1:g.67073243del GRCh37
NC_000015.8:g.64860297del NCBI36
NG_012244.1:g.83570del
NG_012244.2:g.83570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-92del MANE Select ENSP00000288840.5:n.953-92del
ENST00000288840.9:c.953-92del ENSP00000288840.5:n.953-92del
ENST00000557916.5:c.1085-92del ENSP00000452955.1:n.1085-92del
ENST00000559931.5:c.257-92del ENSP00000453446.1:n.257-92del
NM_005585.4:c.953-92del NP_005576.3:n.953-92del
NR_027654.1:n.2008-92del
XM_011521561.1:c.170-92del XP_011519863.1:n.170-92del
XR_931825.1:n.2352-92del
XM_011521561.2:c.170-92del XP_011519863.1:n.170-92del
NM_005585.5:c.953-92del MANE Select NP_005576.3:n.953-92del
NR_027654.2:n.2108-92del
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Search 100 bp 3'