Canonical Allele Identifier: CA2184231525

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894426739

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774216_66774234dup , CM000677.2:g.66774216_66774234dup	GRCh38
NC_000015.9:g.67066554_67066572dup , CM000677.1:g.67066554_67066572dup	GRCh37
NC_000015.8:g.64853608_64853626dup	NCBI36
NG_012244.1:g.76881_76899dup
NG_012244.2:g.76881_76899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6781_953-6763dup MANE Select	ENSP00000288840.5:n.953-6781_953-6763dup
ENST00000288840.9:c.953-6781_953-6763dup	ENSP00000288840.5:n.953-6781_953-6763dup
ENST00000557916.5:c.1085-6781_1085-6763dup	ENSP00000452955.1:n.1085-6781_1085-6763dup
ENST00000559931.5:c.257-6781_257-6763dup	ENSP00000453446.1:n.257-6781_257-6763dup
NM_005585.4:c.953-6781_953-6763dup	NP_005576.3:n.953-6781_953-6763dup
NR_027654.1:n.2008-6781_2008-6763dup
XM_011521561.1:c.170-6781_170-6763dup	XP_011519863.1:n.170-6781_170-6763dup
XR_931825.1:n.2352-6781_2352-6763dup
XM_011521561.2:c.170-6781_170-6763dup	XP_011519863.1:n.170-6781_170-6763dup
NM_005585.5:c.953-6781_953-6763dup MANE Select	NP_005576.3:n.953-6781_953-6763dup
NR_027654.2:n.2108-6781_2108-6763dup