Canonical Allele Identifier: CA2184234647

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781041_66781046delinsAGCGTG , CM000677.2:g.66781041_66781046delinsAGCGTG	GRCh38
NC_000015.9:g.67073379_67073384delinsAGCGTG , CM000677.1:g.67073379_67073384delinsAGCGTG	GRCh37
NC_000015.8:g.64860433_64860438delinsAGCGTG	NCBI36
NG_012244.1:g.83706_83711delinsAGCGTG
NG_012244.2:g.83706_83711delinsAGCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.997_1002delinsAGCGTG MANE Select	ENSP00000288840.5:p.Ser333=
ENST00000288840.9:c.997_1002delinsAGCGTG	ENSP00000288840.5:p.Ser333=
ENST00000557916.5:c.1129_1134delinsAGCGTG	ENSP00000452955.1:n.1129_1134delinsAGCGTG
ENST00000559931.5:c.301_306delinsAGCGTG	ENSP00000453446.1:n.301_306delinsAGCGTG
NM_005585.4:c.997_1002delinsAGCGTG	NP_005576.3:p.Ser333=
NR_027654.1:n.2052_2057delinsAGCGTG
XM_011521561.1:c.214_219delinsAGCGTG	XP_011519863.1:p.Ser72=
XR_931825.1:n.2396_2401delinsAGCGTG
XM_011521561.2:c.214_219delinsAGCGTG	XP_011519863.1:p.Ser72=
NM_005585.5:c.997_1002delinsAGCGTG MANE Select	NP_005576.3:p.Ser333=
NR_027654.2:n.2152_2157delinsAGCGTG