Canonical Allele Identifier: CA2184231407
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs1894422616

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66773998del , CM000677.2:g.66773998del GRCh38
NC_000015.9:g.67066336del , CM000677.1:g.67066336del GRCh37
NC_000015.8:g.64853390del NCBI36
NG_012244.1:g.76663del
NG_012244.2:g.76663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-6999del MANE Select ENSP00000288840.5:n.953-6999del
ENST00000288840.9:c.953-6999del ENSP00000288840.5:n.953-6999del
ENST00000557916.5:c.1085-6999del ENSP00000452955.1:n.1085-6999del
ENST00000559931.5:c.257-6999del ENSP00000453446.1:n.257-6999del
NM_005585.4:c.953-6999del NP_005576.3:n.953-6999del
NR_027654.1:n.2008-6999del
XM_011521561.1:c.170-6999del XP_011519863.1:n.170-6999del
XR_931825.1:n.2352-6999del
XM_011521561.2:c.170-6999del XP_011519863.1:n.170-6999del
NM_005585.5:c.953-6999del MANE Select NP_005576.3:n.953-6999del
NR_027654.2:n.2108-6999del