Canonical Allele Identifier: CA645294080

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 417817
• ClinVar RCV Id: RCV000477938
• dbSNP Id: rs1085307122
• MyVariant Identifiers: chr15:g.67073416del (hg19) ; chr15:g.66781078del (hg38)
• PubMed: PMID:27606499

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781078del , CM000677.2:g.66781078del	GRCh38
NC_000015.9:g.67073416del , CM000677.1:g.67073416del	GRCh37
NC_000015.8:g.64860470del	NCBI36
NG_012244.1:g.83743del
NG_012244.2:g.83743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1034del MANE Select	ENSP00000288840.5:p.Arg345ProfsTer?
ENST00000288840.9:c.1034del	ENSP00000288840.5:p.Arg345ProfsTer?
ENST00000557916.5:c.1166del	ENSP00000452955.1:n.1166del
ENST00000559931.5:c.338del	ENSP00000453446.1:n.338del
NM_005585.4:c.1034del	NP_005576.3:p.Arg345ProfsTer?
NR_027654.1:n.2089del
XM_011521561.1:c.251del	XP_011519863.1:p.Arg84ProfsTer?
XR_931825.1:n.2433del
XM_011521561.2:c.251del	XP_011519863.1:p.Arg84ProfsTer?
NM_005585.5:c.1034del MANE Select	NP_005576.3:p.Arg345ProfsTer?
NR_027654.2:n.2189del