Canonical Allele Identifier: CA2184234680

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781077_66781078delinsCG , CM000677.2:g.66781077_66781078delinsCG	GRCh38
NC_000015.9:g.67073415_67073416delinsCG , CM000677.1:g.67073415_67073416delinsCG	GRCh37
NC_000015.8:g.64860469_64860470delinsCG	NCBI36
NG_012244.1:g.83742_83743delinsCG
NG_012244.2:g.83742_83743delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1033_1034delinsCG MANE Select	ENSP00000288840.5:p.Arg345=
ENST00000288840.9:c.1033_1034delinsCG	ENSP00000288840.5:p.Arg345=
ENST00000557916.5:c.1165_1166delinsCG	ENSP00000452955.1:n.1165_1166delinsCG
ENST00000559931.5:c.337_338delinsCG	ENSP00000453446.1:n.337_338delinsCG
NM_005585.4:c.1033_1034delinsCG	NP_005576.3:p.Arg345=
NR_027654.1:n.2088_2089delinsCG
XM_011521561.1:c.250_251delinsCG	XP_011519863.1:p.Arg84=
XR_931825.1:n.2432_2433delinsCG
XM_011521561.2:c.250_251delinsCG	XP_011519863.1:p.Arg84=
NM_005585.5:c.1033_1034delinsCG MANE Select	NP_005576.3:p.Arg345=
NR_027654.2:n.2188_2189delinsCG