Canonical Allele Identifier: CA2184234645

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781041_66781042delinsAG , CM000677.2:g.66781041_66781042delinsAG	GRCh38
NC_000015.9:g.67073379_67073380delinsAG , CM000677.1:g.67073379_67073380delinsAG	GRCh37
NC_000015.8:g.64860433_64860434delinsAG	NCBI36
NG_012244.1:g.83706_83707delinsAG
NG_012244.2:g.83706_83707delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.997_998delinsAG MANE Select	ENSP00000288840.5:p.Ser333=
ENST00000288840.9:c.997_998delinsAG	ENSP00000288840.5:p.Ser333=
ENST00000557916.5:c.1129_1130delinsAG	ENSP00000452955.1:n.1129_1130delinsAG
ENST00000559931.5:c.301_302delinsAG	ENSP00000453446.1:n.301_302delinsAG
NM_005585.4:c.997_998delinsAG	NP_005576.3:p.Ser333=
NR_027654.1:n.2052_2053delinsAG
XM_011521561.1:c.214_215delinsAG	XP_011519863.1:p.Ser72=
XR_931825.1:n.2396_2397delinsAG
XM_011521561.2:c.214_215delinsAG	XP_011519863.1:p.Ser72=
NM_005585.5:c.997_998delinsAG MANE Select	NP_005576.3:p.Ser333=
NR_027654.2:n.2152_2153delinsAG