Canonical Allele Identifier: CA2184234648

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781042_66781043delinsGC , CM000677.2:g.66781042_66781043delinsGC	GRCh38
NC_000015.9:g.67073380_67073381delinsGC , CM000677.1:g.67073380_67073381delinsGC	GRCh37
NC_000015.8:g.64860434_64860435delinsGC	NCBI36
NG_012244.1:g.83707_83708delinsGC
NG_012244.2:g.83707_83708delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.998_999delinsGC MANE Select	ENSP00000288840.5:p.Ser333=
ENST00000288840.9:c.998_999delinsGC	ENSP00000288840.5:p.Ser333=
ENST00000557916.5:c.1130_1131delinsGC	ENSP00000452955.1:n.1130_1131delinsGC
ENST00000559931.5:c.302_303delinsGC	ENSP00000453446.1:n.302_303delinsGC
NM_005585.4:c.998_999delinsGC	NP_005576.3:p.Ser333=
NR_027654.1:n.2053_2054delinsGC
XM_011521561.1:c.215_216delinsGC	XP_011519863.1:p.Ser72=
XR_931825.1:n.2397_2398delinsGC
XM_011521561.2:c.215_216delinsGC	XP_011519863.1:p.Ser72=
NM_005585.5:c.998_999delinsGC MANE Select	NP_005576.3:p.Ser333=
NR_027654.2:n.2153_2154delinsGC