Canonical Allele Identifier: CA2184234685

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781084_66781086delinsATG , CM000677.2:g.66781084_66781086delinsATG	GRCh38
NC_000015.9:g.67073422_67073424delinsATG , CM000677.1:g.67073422_67073424delinsATG	GRCh37
NC_000015.8:g.64860476_64860478delinsATG	NCBI36
NG_012244.1:g.83749_83751delinsATG
NG_012244.2:g.83749_83751delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1040_1042delinsATG MANE Select	ENSP00000288840.5:p.Tyr347=
ENST00000288840.9:c.1040_1042delinsATG	ENSP00000288840.5:p.Tyr347=
ENST00000557916.5:c.1172_1174delinsATG	ENSP00000452955.1:n.1172_1174delinsATG
ENST00000559931.5:c.344_346delinsATG	ENSP00000453446.1:n.344_346delinsATG
NM_005585.4:c.1040_1042delinsATG	NP_005576.3:p.Tyr347=
NR_027654.1:n.2095_2097delinsATG
XM_011521561.1:c.257_259delinsATG	XP_011519863.1:p.Tyr86=
XR_931825.1:n.2439_2441delinsATG
XM_011521561.2:c.257_259delinsATG	XP_011519863.1:p.Tyr86=
NM_005585.5:c.1040_1042delinsATG MANE Select	NP_005576.3:p.Tyr347=
NR_027654.2:n.2195_2197delinsATG