Canonical Allele Identifier: CA2697549148

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2758875
• ClinVar RCV Id: RCV003531870

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781095dup , CM000677.2:g.66781095dup	GRCh38
NC_000015.9:g.67073433dup , CM000677.1:g.67073433dup	GRCh37
NC_000015.8:g.64860487dup	NCBI36
NG_012244.1:g.83760dup
NG_012244.2:g.83760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1051dup MANE Select	ENSP00000288840.5:p.Asp351GlyfsTer?
ENST00000288840.9:c.1051dup	ENSP00000288840.5:p.Asp351GlyfsTer?
ENST00000557916.5:c.1183dup	ENSP00000452955.1:n.1183dup
ENST00000559931.5:c.355dup	ENSP00000453446.1:n.355dup
NM_005585.4:c.1051dup	NP_005576.3:p.Asp351GlyfsTer?
NR_027654.1:n.2106dup
XM_011521561.1:c.268dup	XP_011519863.1:p.Asp90GlyfsTer?
XR_931825.1:n.2450dup
XM_011521561.2:c.268dup	XP_011519863.1:p.Asp90GlyfsTer?
NM_005585.5:c.1051dup MANE Select	NP_005576.3:p.Asp351GlyfsTer?
NR_027654.2:n.2206dup