Canonical Allele Identifier: CA2573054087

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1174545
• ClinVar RCV Id: RCV001799767
• dbSNP Id: rs2140680984

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781001_66781002insGCAA , CM000677.2:g.66781001_66781002insGCAA	GRCh38
NC_000015.9:g.67073339_67073340insGCAA , CM000677.1:g.67073339_67073340insGCAA	GRCh37
NC_000015.8:g.64860393_64860394insGCAA	NCBI36
NG_012244.1:g.83666_83667insGCAA
NG_012244.2:g.83666_83667insGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.957_958insGCAA MANE Select	ENSP00000288840.5:p.Ser320AlafsTer?
ENST00000288840.9:c.957_958insGCAA	ENSP00000288840.5:p.Ser320AlafsTer?
ENST00000557916.5:c.1089_1090insGCAA	ENSP00000452955.1:n.1089_1090insGCAA
ENST00000559931.5:c.261_262insGCAA	ENSP00000453446.1:n.261_262insGCAA
NM_005585.4:c.957_958insGCAA	NP_005576.3:p.Ser320AlafsTer?
NR_027654.1:n.2012_2013insGCAA
XM_011521561.1:c.174_175insGCAA	XP_011519863.1:p.Ser59AlafsTer?
XR_931825.1:n.2356_2357insGCAA
XM_011521561.2:c.174_175insGCAA	XP_011519863.1:p.Ser59AlafsTer?
NM_005585.5:c.957_958insGCAA MANE Select	NP_005576.3:p.Ser320AlafsTer?
NR_027654.2:n.2112_2113insGCAA