Canonical Allele Identifier: CA916083431

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 864659
• ClinVar RCV Id: RCV001071898
• dbSNP Id: rs1894554603

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781084del , CM000677.2:g.66781084del	GRCh38
NC_000015.9:g.67073422del , CM000677.1:g.67073422del	GRCh37
NC_000015.8:g.64860476del	NCBI36
NG_012244.1:g.83749del
NG_012244.2:g.83749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1040del MANE Select	ENSP00000288840.5:p.Tyr347LeufsTer?
ENST00000288840.9:c.1040del	ENSP00000288840.5:p.Tyr347LeufsTer?
ENST00000557916.5:c.1172del	ENSP00000452955.1:n.1172del
ENST00000559931.5:c.344del	ENSP00000453446.1:n.344del
NM_005585.4:c.1040del	NP_005576.3:p.Tyr347LeufsTer?
NR_027654.1:n.2095del
XM_011521561.1:c.257del	XP_011519863.1:p.Tyr86LeufsTer?
XR_931825.1:n.2439del
XM_011521561.2:c.257del	XP_011519863.1:p.Tyr86LeufsTer?
NM_005585.5:c.1040del MANE Select	NP_005576.3:p.Tyr347LeufsTer?
NR_027654.2:n.2195del