Canonical Allele Identifier: CA2580089887

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2111638
• ClinVar RCV Id: RCV003024007

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781085_66781088del , CM000677.2:g.66781085_66781088del	GRCh38
NC_000015.9:g.67073423_67073426del , CM000677.1:g.67073423_67073426del	GRCh37
NC_000015.8:g.64860477_64860480del	NCBI36
NG_012244.1:g.83750_83753del
NG_012244.2:g.83750_83753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1041_1044del MANE Select	ENSP00000288840.5:p.Tyr347Ter
ENST00000288840.9:c.1041_1044del	ENSP00000288840.5:p.Tyr347Ter
ENST00000557916.5:c.1173_1176del	ENSP00000452955.1:n.1173_1176del
ENST00000559931.5:c.345_348del	ENSP00000453446.1:n.345_348del
NM_005585.4:c.1041_1044del	NP_005576.3:p.Tyr347Ter
NR_027654.1:n.2096_2099del
XM_011521561.1:c.258_261del	XP_011519863.1:p.Tyr86Ter
XR_931825.1:n.2440_2443del
XM_011521561.2:c.258_261del	XP_011519863.1:p.Tyr86Ter
NM_005585.5:c.1041_1044del MANE Select	NP_005576.3:p.Tyr347Ter
NR_027654.2:n.2196_2199del