Canonical Allele Identifier: CA2573151065

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1661028
• ClinVar RCV Id: RCV002176401
• dbSNP Id: rs2140680944

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780980dup , CM000677.2:g.66780980dup	GRCh38
NC_000015.9:g.67073318dup , CM000677.1:g.67073318dup	GRCh37
NC_000015.8:g.64860372dup	NCBI36
NG_012244.1:g.83645dup
NG_012244.2:g.83645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-17dup MANE Select	ENSP00000288840.5:n.953-17dup
ENST00000288840.9:c.953-17dup	ENSP00000288840.5:n.953-17dup
ENST00000557916.5:c.1085-17dup	ENSP00000452955.1:n.1085-17dup
ENST00000559931.5:c.257-17dup	ENSP00000453446.1:n.257-17dup
NM_005585.4:c.953-17dup	NP_005576.3:n.953-17dup
NR_027654.1:n.2008-17dup
XM_011521561.1:c.170-17dup	XP_011519863.1:n.170-17dup
XR_931825.1:n.2352-17dup
XM_011521561.2:c.170-17dup	XP_011519863.1:n.170-17dup
NM_005585.5:c.953-17dup MANE Select	NP_005576.3:n.953-17dup
NR_027654.2:n.2108-17dup