Canonical Allele Identifier: CA2184198254

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703279_66703284delinsGGGGCT , CM000677.2:g.66703279_66703284delinsGGGGCT	GRCh38
NC_000015.9:g.66995617_66995622delinsGGGGCT , CM000677.1:g.66995617_66995622delinsGGGGCT	GRCh37
NC_000015.8:g.64782671_64782676delinsGGGGCT	NCBI36
NG_012244.1:g.5944_5949delinsGGGGCT
NG_012244.2:g.5944_5949delinsGGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.21_26delinsGGGGCT MANE Select	ENSP00000288840.5:p.Ser7=
ENST00000288840.9:c.21_26delinsGGGGCT	ENSP00000288840.5:p.Ser7=
ENST00000557916.5:c.21_26delinsGGGGCT	ENSP00000452955.1:p.Ser7=
ENST00000612349.1:n.203_208delinsGGGGCT
NM_005585.4:c.21_26delinsGGGGCT	NP_005576.3:p.Ser7=
NR_027654.1:n.944_949delinsGGGGCT
XR_931825.1:n.1180_1185delinsGGGGCT
XR_931826.1:n.1180_1185delinsGGGGCT
XR_931827.1:n.1180_1185delinsGGGGCT
XR_931827.2:n.1170_1175delinsGGGGCT
NM_005585.5:c.21_26delinsGGGGCT MANE Select	NP_005576.3:p.Ser7=
NR_027654.2:n.1044_1049delinsGGGGCT