Canonical Allele Identifier: CA2184234564
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66780914_66780916delinsGAC , CM000677.2:g.66780914_66780916delinsGAC GRCh38
NC_000015.9:g.67073252_67073254delinsGAC , CM000677.1:g.67073252_67073254delinsGAC GRCh37
NC_000015.8:g.64860306_64860308delinsGAC NCBI36
NG_012244.1:g.83579_83581delinsGAC
NG_012244.2:g.83579_83581delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-83_953-81delinsGAC MANE Select ENSP00000288840.5:n.953-83_953-81delinsGAC
ENST00000288840.9:c.953-83_953-81delinsGAC ENSP00000288840.5:n.953-83_953-81delinsGAC
ENST00000557916.5:c.1085-83_1085-81delinsGAC ENSP00000452955.1:n.1085-83_1085-81delinsGAC
ENST00000559931.5:c.257-83_257-81delinsGAC ENSP00000453446.1:n.257-83_257-81delinsGAC
NM_005585.4:c.953-83_953-81delinsGAC NP_005576.3:n.953-83_953-81delinsGAC
NR_027654.1:n.2008-83_2008-81delinsGAC
XM_011521561.1:c.170-83_170-81delinsGAC XP_011519863.1:n.170-83_170-81delinsGAC
XR_931825.1:n.2352-83_2352-81delinsGAC
XM_011521561.2:c.170-83_170-81delinsGAC XP_011519863.1:n.170-83_170-81delinsGAC
NM_005585.5:c.953-83_953-81delinsGAC MANE Select NP_005576.3:n.953-83_953-81delinsGAC
NR_027654.2:n.2108-83_2108-81delinsGAC