Canonical Allele Identifier: CA2184231435

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774037_66774038delinsAC , CM000677.2:g.66774037_66774038delinsAC	GRCh38
NC_000015.9:g.67066375_67066376delinsAC , CM000677.1:g.67066375_67066376delinsAC	GRCh37
NC_000015.8:g.64853429_64853430delinsAC	NCBI36
NG_012244.1:g.76702_76703delinsAC
NG_012244.2:g.76702_76703delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6960_953-6959delinsAC MANE Select	ENSP00000288840.5:n.953-6960_953-6959delinsAC
ENST00000288840.9:c.953-6960_953-6959delinsAC	ENSP00000288840.5:n.953-6960_953-6959delinsAC
ENST00000557916.5:c.1085-6960_1085-6959delinsAC	ENSP00000452955.1:n.1085-6960_1085-6959delinsAC
ENST00000559931.5:c.257-6960_257-6959delinsAC	ENSP00000453446.1:n.257-6960_257-6959delinsAC
NM_005585.4:c.953-6960_953-6959delinsAC	NP_005576.3:n.953-6960_953-6959delinsAC
NR_027654.1:n.2008-6960_2008-6959delinsAC
XM_011521561.1:c.170-6960_170-6959delinsAC	XP_011519863.1:n.170-6960_170-6959delinsAC
XR_931825.1:n.2352-6960_2352-6959delinsAC
XM_011521561.2:c.170-6960_170-6959delinsAC	XP_011519863.1:n.170-6960_170-6959delinsAC
NM_005585.5:c.953-6960_953-6959delinsAC MANE Select	NP_005576.3:n.953-6960_953-6959delinsAC
NR_027654.2:n.2108-6960_2108-6959delinsAC