Canonical Allele Identifier: CA2499223049

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1210484
• ClinVar RCV Id: RCV001581206 ; RCV003533010
• dbSNP Id: rs2140681355
• gnomAD v4: 15-66781099-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781099_66781100insAT , CM000677.2:g.66781099_66781100insAT	GRCh38
NC_000015.9:g.67073437_67073438insAT , CM000677.1:g.67073437_67073438insAT	GRCh37
NC_000015.8:g.64860491_64860492insAT	NCBI36
NG_012244.1:g.83764_83765insAT
NG_012244.2:g.83764_83765insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1055_1056insAT MANE Select	ENSP00000288840.5:p.Ala353TrpfsTer?
ENST00000288840.9:c.1055_1056insAT	ENSP00000288840.5:p.Ala353TrpfsTer?
ENST00000557916.5:c.1187_1188insAT	ENSP00000452955.1:n.1187_1188insAT
ENST00000559931.5:c.359_360insAT	ENSP00000453446.1:n.359_360insAT
NM_005585.4:c.1055_1056insAT	NP_005576.3:p.Ala353TrpfsTer?
NR_027654.1:n.2110_2111insAT
XM_011521561.1:c.272_273insAT	XP_011519863.1:p.Ala92TrpfsTer?
XR_931825.1:n.2454_2455insAT
XM_011521561.2:c.272_273insAT	XP_011519863.1:p.Ala92TrpfsTer?
NM_005585.5:c.1055_1056insAT MANE Select	NP_005576.3:p.Ala353TrpfsTer?
NR_027654.2:n.2210_2211insAT