Canonical Allele Identifier: CA2184234535

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780865_66780868delinsCCCA , CM000677.2:g.66780865_66780868delinsCCCA	GRCh38
NC_000015.9:g.67073203_67073206delinsCCCA , CM000677.1:g.67073203_67073206delinsCCCA	GRCh37
NC_000015.8:g.64860257_64860260delinsCCCA	NCBI36
NG_012244.1:g.83530_83533delinsCCCA
NG_012244.2:g.83530_83533delinsCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-132_953-129delinsCCCA MANE Select	ENSP00000288840.5:n.953-132_953-129delinsCCCA
ENST00000288840.9:c.953-132_953-129delinsCCCA	ENSP00000288840.5:n.953-132_953-129delinsCCCA
ENST00000557916.5:c.1085-132_1085-129delinsCCCA	ENSP00000452955.1:n.1085-132_1085-129delinsCCCA
ENST00000559931.5:c.257-132_257-129delinsCCCA	ENSP00000453446.1:n.257-132_257-129delinsCCCA
NM_005585.4:c.953-132_953-129delinsCCCA	NP_005576.3:n.953-132_953-129delinsCCCA
NR_027654.1:n.2008-132_2008-129delinsCCCA
XM_011521561.1:c.170-132_170-129delinsCCCA	XP_011519863.1:n.170-132_170-129delinsCCCA
XR_931825.1:n.2352-132_2352-129delinsCCCA
XM_011521561.2:c.170-132_170-129delinsCCCA	XP_011519863.1:n.170-132_170-129delinsCCCA
NM_005585.5:c.953-132_953-129delinsCCCA MANE Select	NP_005576.3:n.953-132_953-129delinsCCCA
NR_027654.2:n.2108-132_2108-129delinsCCCA