Canonical Allele Identifier: CA2573151066

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1359117
• ClinVar RCV Id: RCV001872183
• dbSNP Id: rs2140681073

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781035_66781036insCAC , CM000677.2:g.66781035_66781036insCAC	GRCh38
NC_000015.9:g.67073373_67073374insCAC , CM000677.1:g.67073373_67073374insCAC	GRCh37
NC_000015.8:g.64860427_64860428insCAC	NCBI36
NG_012244.1:g.83700_83701insCAC
NG_012244.2:g.83700_83701insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.991_992insCAC MANE Select	ENSP00000288840.5:p.Trp331delinsSerArg
ENST00000288840.9:c.991_992insCAC	ENSP00000288840.5:p.Trp331delinsSerArg
ENST00000557916.5:c.1123_1124insCAC	ENSP00000452955.1:n.1123_1124insCAC
ENST00000559931.5:c.295_296insCAC	ENSP00000453446.1:n.295_296insCAC
NM_005585.4:c.991_992insCAC	NP_005576.3:p.Trp331delinsSerArg
NR_027654.1:n.2046_2047insCAC
XM_011521561.1:c.208_209insCAC	XP_011519863.1:p.Trp70delinsSerArg
XR_931825.1:n.2390_2391insCAC
XM_011521561.2:c.208_209insCAC	XP_011519863.1:p.Trp70delinsSerArg
NM_005585.5:c.991_992insCAC MANE Select	NP_005576.3:p.Trp331delinsSerArg
NR_027654.2:n.2146_2147insCAC