Canonical Allele Identifier: CA2184234709

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894556116

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781122dup , CM000677.2:g.66781122dup	GRCh38
NC_000015.9:g.67073460dup , CM000677.1:g.67073460dup	GRCh37
NC_000015.8:g.64860514dup	NCBI36
NG_012244.1:g.83787dup
NG_012244.2:g.83787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1078dup MANE Select	ENSP00000288840.5:p.Leu360ProfsTer?
ENST00000288840.9:c.1078dup	ENSP00000288840.5:p.Leu360ProfsTer?
ENST00000557916.5:c.1210dup	ENSP00000452955.1:n.1210dup
ENST00000559931.5:c.382dup	ENSP00000453446.1:n.382dup
NM_005585.4:c.1078dup	NP_005576.3:p.Leu360ProfsTer?
NR_027654.1:n.2133dup
XM_011521561.1:c.295dup	XP_011519863.1:p.Leu99ProfsTer?
XR_931825.1:n.2477dup
XM_011521561.2:c.295dup	XP_011519863.1:p.Leu99ProfsTer?
NM_005585.5:c.1078dup MANE Select	NP_005576.3:p.Leu360ProfsTer?
NR_027654.2:n.2233dup