Canonical Allele Identifier: CA2575767596
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66780953_66780960del , CM000677.2:g.66780953_66780960del GRCh38
NC_000015.9:g.67073291_67073298del , CM000677.1:g.67073291_67073298del GRCh37
NC_000015.8:g.64860345_64860352del NCBI36
NG_012244.1:g.83618_83625del
NG_012244.2:g.83618_83625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.953-44_953-37del MANE Select ENSP00000288840.5:n.953-44_953-37del
ENST00000288840.9:c.953-44_953-37del ENSP00000288840.5:n.953-44_953-37del
ENST00000557916.5:c.1085-44_1085-37del ENSP00000452955.1:n.1085-44_1085-37del
ENST00000559931.5:c.257-44_257-37del ENSP00000453446.1:n.257-44_257-37del
NM_005585.4:c.953-44_953-37del NP_005576.3:n.953-44_953-37del
NR_027654.1:n.2008-44_2008-37del
XM_011521561.1:c.170-44_170-37del XP_011519863.1:n.170-44_170-37del
XR_931825.1:n.2352-44_2352-37del
XM_011521561.2:c.170-44_170-37del XP_011519863.1:n.170-44_170-37del
NM_005585.5:c.953-44_953-37del MANE Select NP_005576.3:n.953-44_953-37del
NR_027654.2:n.2108-44_2108-37del