Canonical Allele Identifier: CA2184198280

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703322_66703323delinsCG , CM000677.2:g.66703322_66703323delinsCG	GRCh38
NC_000015.9:g.66995660_66995661delinsCG , CM000677.1:g.66995660_66995661delinsCG	GRCh37
NC_000015.8:g.64782714_64782715delinsCG	NCBI36
NG_012244.1:g.5987_5988delinsCG
NG_012244.2:g.5987_5988delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.64_65delinsCG MANE Select	ENSP00000288840.5:p.Arg22=
ENST00000288840.9:c.64_65delinsCG	ENSP00000288840.5:p.Arg22=
ENST00000557916.5:c.64_65delinsCG	ENSP00000452955.1:p.Arg22=
ENST00000612349.1:n.246_247delinsCG
NM_005585.4:c.64_65delinsCG	NP_005576.3:p.Arg22=
NR_027654.1:n.987_988delinsCG
XR_931825.1:n.1223_1224delinsCG
XR_931826.1:n.1223_1224delinsCG
XR_931827.1:n.1223_1224delinsCG
XR_931827.2:n.1213_1214delinsCG
NM_005585.5:c.64_65delinsCG MANE Select	NP_005576.3:p.Arg22=
NR_027654.2:n.1087_1088delinsCG