Canonical Allele Identifier: CA7626428

Gene: SMAD6

Linked Data

• dbSNP Id: rs750149627
• ExAC: 15:66995680 C / CGGCGGCGGT
• gnomAD v2: 15-66995680-C-CGGCGGCGGT
• gnomAD v4: 15-66703342-C-CGGCGGCGGT
• MyVariant Identifiers: chr15:g.66995689_66995690insGGCGGCGGT (hg19) ; chr15:g.66995680_66995681insGGCGGCGGT (hg19) ; chr15:g.66703342_66703343insGGCGGCGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703350_66703358dup , CM000677.2:g.66703350_66703358dup	GRCh38
NC_000015.9:g.66995688_66995696dup , CM000677.1:g.66995688_66995696dup	GRCh37
NC_000015.8:g.64782742_64782750dup	NCBI36
NG_012244.1:g.6015_6023dup
NG_012244.2:g.6015_6023dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.92_100dup MANE Select	ENSP00000288840.5:p.Gly33_Asp34insGlyGlyGly
ENST00000288840.9:c.92_100dup	ENSP00000288840.5:p.Gly33_Asp34insGlyGlyGly
ENST00000557916.5:c.92_100dup	ENSP00000452955.1:p.Gly33_Asp34insGlyGlyGly
ENST00000612349.1:n.274_282dup
NM_005585.4:c.92_100dup	NP_005576.3:p.Gly33_Asp34insGlyGlyGly
NR_027654.1:n.1015_1023dup
XR_931825.1:n.1251_1259dup
XR_931826.1:n.1251_1259dup
XR_931827.1:n.1251_1259dup
XR_931827.2:n.1241_1249dup
NM_005585.5:c.92_100dup MANE Select	NP_005576.3:p.Gly33_Asp34insGlyGlyGly
NR_027654.2:n.1115_1123dup