Canonical Allele Identifier: CA2184234681

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781080_66781081delinsCT , CM000677.2:g.66781080_66781081delinsCT	GRCh38
NC_000015.9:g.67073418_67073419delinsCT , CM000677.1:g.67073418_67073419delinsCT	GRCh37
NC_000015.8:g.64860472_64860473delinsCT	NCBI36
NG_012244.1:g.83745_83746delinsCT
NG_012244.2:g.83745_83746delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1036_1037delinsCT MANE Select	ENSP00000288840.5:p.Leu346=
ENST00000288840.9:c.1036_1037delinsCT	ENSP00000288840.5:p.Leu346=
ENST00000557916.5:c.1168_1169delinsCT	ENSP00000452955.1:n.1168_1169delinsCT
ENST00000559931.5:c.340_341delinsCT	ENSP00000453446.1:n.340_341delinsCT
NM_005585.4:c.1036_1037delinsCT	NP_005576.3:p.Leu346=
NR_027654.1:n.2091_2092delinsCT
XM_011521561.1:c.253_254delinsCT	XP_011519863.1:p.Leu85=
XR_931825.1:n.2435_2436delinsCT
XM_011521561.2:c.253_254delinsCT	XP_011519863.1:p.Leu85=
NM_005585.5:c.1036_1037delinsCT MANE Select	NP_005576.3:p.Leu346=
NR_027654.2:n.2191_2192delinsCT