Canonical Allele Identifier: CA2804555451

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781049del , CM000677.2:g.66781049del	GRCh38
NC_000015.9:g.67073387del , CM000677.1:g.67073387del	GRCh37
NC_000015.8:g.64860441del	NCBI36
NG_012244.1:g.83714del
NG_012244.2:g.83714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1005del MANE Select	ENSP00000288840.5:p.Tyr336ThrfsTer?
ENST00000288840.9:c.1005del	ENSP00000288840.5:p.Tyr336ThrfsTer?
ENST00000557916.5:c.1137del	ENSP00000452955.1:n.1137del
ENST00000559931.5:c.309del	ENSP00000453446.1:n.309del
NM_005585.4:c.1005del	NP_005576.3:p.Tyr336ThrfsTer?
NR_027654.1:n.2060del
XM_011521561.1:c.222del	XP_011519863.1:p.Tyr75ThrfsTer?
XR_931825.1:n.2404del
XM_011521561.2:c.222del	XP_011519863.1:p.Tyr75ThrfsTer?
NM_005585.5:c.1005del MANE Select	NP_005576.3:p.Tyr336ThrfsTer?
NR_027654.2:n.2160del