Canonical Allele Identifier: CA2184234651

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894551906

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781043_66781044del , CM000677.2:g.66781043_66781044del	GRCh38
NC_000015.9:g.67073381_67073382del , CM000677.1:g.67073381_67073382del	GRCh37
NC_000015.8:g.64860435_64860436del	NCBI36
NG_012244.1:g.83708_83709del
NG_012244.2:g.83708_83709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.999_1000del MANE Select	ENSP00000288840.5:p.Val334GlyfsTer?
ENST00000288840.9:c.999_1000del	ENSP00000288840.5:p.Val334GlyfsTer?
ENST00000557916.5:c.1131_1132del	ENSP00000452955.1:n.1131_1132del
ENST00000559931.5:c.303_304del	ENSP00000453446.1:n.303_304del
NM_005585.4:c.999_1000del	NP_005576.3:p.Val334GlyfsTer?
NR_027654.1:n.2054_2055del
XM_011521561.1:c.216_217del	XP_011519863.1:p.Val73GlyfsTer?
XR_931825.1:n.2398_2399del
XM_011521561.2:c.216_217del	XP_011519863.1:p.Val73GlyfsTer?
NM_005585.5:c.999_1000del MANE Select	NP_005576.3:p.Val334GlyfsTer?
NR_027654.2:n.2154_2155del