Canonical Allele Identifier: CA2731108483

Gene: SMAD6

Linked Data

• dbSNP Id: rs2140681217

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781061_66781066del , CM000677.2:g.66781061_66781066del	GRCh38
NC_000015.9:g.67073399_67073404del , CM000677.1:g.67073399_67073404del	GRCh37
NC_000015.8:g.64860453_64860458del	NCBI36
NG_012244.1:g.83726_83731del
NG_012244.2:g.83726_83731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1017_1022del MANE Select	ENSP00000288840.5:p.His339_Thr341delinsGln
ENST00000288840.9:c.1017_1022del	ENSP00000288840.5:p.His339_Thr341delinsGln
ENST00000557916.5:c.1149_1154del	ENSP00000452955.1:n.1149_1154del
ENST00000559931.5:c.321_326del	ENSP00000453446.1:n.321_326del
NM_005585.4:c.1017_1022del	NP_005576.3:p.His339_Thr341delinsGln
NR_027654.1:n.2072_2077del
XM_011521561.1:c.234_239del	XP_011519863.1:p.His78_Thr80delinsGln
XR_931825.1:n.2416_2421del
XM_011521561.2:c.234_239del	XP_011519863.1:p.His78_Thr80delinsGln
NM_005585.5:c.1017_1022del MANE Select	NP_005576.3:p.His339_Thr341delinsGln
NR_027654.2:n.2172_2177del