Canonical Allele Identifier: CA2804555450

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781033_66781034dup , CM000677.2:g.66781033_66781034dup	GRCh38
NC_000015.9:g.67073371_67073372dup , CM000677.1:g.67073371_67073372dup	GRCh37
NC_000015.8:g.64860425_64860426dup	NCBI36
NG_012244.1:g.83698_83699dup
NG_012244.2:g.83698_83699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.989_990dup MANE Select	ENSP00000288840.5:p.Trp331ThrfsTer?
ENST00000288840.9:c.989_990dup	ENSP00000288840.5:p.Trp331ThrfsTer?
ENST00000557916.5:c.1121_1122dup	ENSP00000452955.1:n.1121_1122dup
ENST00000559931.5:c.293_294dup	ENSP00000453446.1:n.293_294dup
NM_005585.4:c.989_990dup	NP_005576.3:p.Trp331ThrfsTer?
NR_027654.1:n.2044_2045dup
XM_011521561.1:c.206_207dup	XP_011519863.1:p.Trp70ThrfsTer?
XR_931825.1:n.2388_2389dup
XM_011521561.2:c.206_207dup	XP_011519863.1:p.Trp70ThrfsTer?
NM_005585.5:c.989_990dup MANE Select	NP_005576.3:p.Trp331ThrfsTer?
NR_027654.2:n.2144_2145dup