Canonical Allele Identifier: CA2575767601
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66780995_66781005dup , CM000677.2:g.66780995_66781005dup GRCh38
NC_000015.9:g.67073333_67073343dup , CM000677.1:g.67073333_67073343dup GRCh37
NC_000015.8:g.64860387_64860397dup NCBI36
NG_012244.1:g.83660_83670dup
NG_012244.2:g.83660_83670dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-2_961dup
ENST00000288840.9:c.953-2_961dup
ENST00000557916.5:c.1085-2_1093dup
ENST00000559931.5:c.257-2_265dup
NM_005585.4:c.953-2_961dup
NR_027654.1:n.2008-2_2016dup
XM_011521561.1:c.170-2_178dup
XR_931825.1:n.2352-2_2360dup
XM_011521561.2:c.170-2_178dup
NM_005585.5:c.953-2_961dup
NR_027654.2:n.2108-2_2116dup