Canonical Allele Identifier: CA2575767602

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781010_66781011del , CM000677.2:g.66781010_66781011del	GRCh38
NC_000015.9:g.67073348_67073349del , CM000677.1:g.67073348_67073349del	GRCh37
NC_000015.8:g.64860402_64860403del	NCBI36
NG_012244.1:g.83675_83676del
NG_012244.2:g.83675_83676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.966_967del MANE Select	ENSP00000288840.5:p.Pro323GlyfsTer?
ENST00000288840.9:c.966_967del	ENSP00000288840.5:p.Pro323GlyfsTer?
ENST00000557916.5:c.1098_1099del	ENSP00000452955.1:n.1098_1099del
ENST00000559931.5:c.270_271del	ENSP00000453446.1:n.270_271del
NM_005585.4:c.966_967del	NP_005576.3:p.Pro323GlyfsTer?
NR_027654.1:n.2021_2022del
XM_011521561.1:c.183_184del	XP_011519863.1:p.Pro62GlyfsTer?
XR_931825.1:n.2365_2366del
XM_011521561.2:c.183_184del	XP_011519863.1:p.Pro62GlyfsTer?
NM_005585.5:c.966_967del MANE Select	NP_005576.3:p.Pro323GlyfsTer?
NR_027654.2:n.2121_2122del