Canonical Allele Identifier: CA2573054089

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1174585
• ClinVar RCV Id: RCV001799807
• dbSNP Id: rs2140681497

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781143dup , CM000677.2:g.66781143dup	GRCh38
NC_000015.9:g.67073481dup , CM000677.1:g.67073481dup	GRCh37
NC_000015.8:g.64860535dup	NCBI36
NG_012244.1:g.83808dup
NG_012244.2:g.83808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1099dup MANE Select	ENSP00000288840.5:p.Cys367LeufsTer?
ENST00000288840.9:c.1099dup	ENSP00000288840.5:p.Cys367LeufsTer?
ENST00000557916.5:c.1231dup	ENSP00000452955.1:n.1231dup
ENST00000559931.5:c.403dup	ENSP00000453446.1:n.403dup
NM_005585.4:c.1099dup	NP_005576.3:p.Cys367LeufsTer?
NR_027654.1:n.2154dup
XM_011521561.1:c.316dup	XP_011519863.1:p.Cys106LeufsTer?
XR_931825.1:n.2498dup
XM_011521561.2:c.316dup	XP_011519863.1:p.Cys106LeufsTer?
NM_005585.5:c.1099dup MANE Select	NP_005576.3:p.Cys367LeufsTer?
NR_027654.2:n.2254dup