Canonical Allele Identifier: CA2804555248

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66773902_66773941del , CM000677.2:g.66773902_66773941del	GRCh38
NC_000015.9:g.67066240_67066279del , CM000677.1:g.67066240_67066279del	GRCh37
NC_000015.8:g.64853294_64853333del	NCBI36
NG_012244.1:g.76567_76606del
NG_012244.2:g.76567_76606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-7095_953-7056del MANE Select	ENSP00000288840.5:n.953-7095_953-7056del
ENST00000288840.9:c.953-7095_953-7056del	ENSP00000288840.5:n.953-7095_953-7056del
ENST00000557916.5:c.1085-7095_1085-7056del	ENSP00000452955.1:n.1085-7095_1085-7056del
ENST00000559931.5:c.257-7095_257-7056del	ENSP00000453446.1:n.257-7095_257-7056del
NM_005585.4:c.953-7095_953-7056del	NP_005576.3:n.953-7095_953-7056del
NR_027654.1:n.2008-7095_2008-7056del
XM_011521561.1:c.170-7095_170-7056del	XP_011519863.1:n.170-7095_170-7056del
XR_931825.1:n.2352-7095_2352-7056del
XM_011521561.2:c.170-7095_170-7056del	XP_011519863.1:n.170-7095_170-7056del
NM_005585.5:c.953-7095_953-7056del MANE Select	NP_005576.3:n.953-7095_953-7056del
NR_027654.2:n.2108-7095_2108-7056del