Canonical Allele Identifier: CA2575767635

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781083dup , CM000677.2:g.66781083dup	GRCh38
NC_000015.9:g.67073421dup , CM000677.1:g.67073421dup	GRCh37
NC_000015.8:g.64860475dup	NCBI36
NG_012244.1:g.83748dup
NG_012244.2:g.83748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1039dup MANE Select	ENSP00000288840.5:p.Tyr347LeufsTer?
ENST00000288840.9:c.1039dup	ENSP00000288840.5:p.Tyr347LeufsTer?
ENST00000557916.5:c.1171dup	ENSP00000452955.1:n.1171dup
ENST00000559931.5:c.343dup	ENSP00000453446.1:n.343dup
NM_005585.4:c.1039dup	NP_005576.3:p.Tyr347LeufsTer?
NR_027654.1:n.2094dup
XM_011521561.1:c.256dup	XP_011519863.1:p.Tyr86LeufsTer?
XR_931825.1:n.2438dup
XM_011521561.2:c.256dup	XP_011519863.1:p.Tyr86LeufsTer?
NM_005585.5:c.1039dup MANE Select	NP_005576.3:p.Tyr347LeufsTer?
NR_027654.2:n.2194dup