Canonical Allele Identifier: CA2695220914

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781146del , CM000677.2:g.66781146del	GRCh38
NC_000015.9:g.67073484del , CM000677.1:g.67073484del	GRCh37
NC_000015.8:g.64860538del	NCBI36
NG_012244.1:g.83811del
NG_012244.2:g.83811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1102del MANE Select	ENSP00000288840.5:p.Leu368TrpfsTer?
ENST00000288840.9:c.1102del	ENSP00000288840.5:p.Leu368TrpfsTer?
ENST00000557916.5:c.1234del	ENSP00000452955.1:n.1234del
ENST00000559931.5:c.406del	ENSP00000453446.1:n.406del
NM_005585.4:c.1102del	NP_005576.3:p.Leu368TrpfsTer?
NR_027654.1:n.2157del
XM_011521561.1:c.319del	XP_011519863.1:p.Leu107TrpfsTer?
XR_931825.1:n.2501del
XM_011521561.2:c.319del	XP_011519863.1:p.Leu107TrpfsTer?
NM_005585.5:c.1102del MANE Select	NP_005576.3:p.Leu368TrpfsTer?
NR_027654.2:n.2257del