Canonical Allele Identifier: CA2184198291

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703333_66703334delinsCG , CM000677.2:g.66703333_66703334delinsCG	GRCh38
NC_000015.9:g.66995671_66995672delinsCG , CM000677.1:g.66995671_66995672delinsCG	GRCh37
NC_000015.8:g.64782725_64782726delinsCG	NCBI36
NG_012244.1:g.5998_5999delinsCG
NG_012244.2:g.5998_5999delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.75_76delinsCG MANE Select	ENSP00000288840.5:p.Gly25=
ENST00000288840.9:c.75_76delinsCG	ENSP00000288840.5:p.Gly25=
ENST00000557916.5:c.75_76delinsCG	ENSP00000452955.1:p.Gly25=
ENST00000612349.1:n.257_258delinsCG
NM_005585.4:c.75_76delinsCG	NP_005576.3:p.Gly25=
NR_027654.1:n.998_999delinsCG
XR_931825.1:n.1234_1235delinsCG
XR_931826.1:n.1234_1235delinsCG
XR_931827.1:n.1234_1235delinsCG
XR_931827.2:n.1224_1225delinsCG
NM_005585.5:c.75_76delinsCG MANE Select	NP_005576.3:p.Gly25=
NR_027654.2:n.1098_1099delinsCG