Canonical Allele Identifier: CA16614467

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 405516
• ClinVar RCV Id: RCV000456579
• dbSNP Id: rs750149627
• gnomAD v2: 15-66995680-CGGCGGCGGT-C
• gnomAD v3: 15-66703342-CGGCGGCGGT-C
• gnomAD v4: 15-66703342-CGGCGGCGGT-C
• MyVariant Identifiers: chr15:g.66995688_66995696del (hg19) ; chr15:g.66995681_66995689del (hg19) ; chr15:g.66703350_66703358del (hg38) ; chr15:g.66703343_66703351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703350_66703358del , CM000677.2:g.66703350_66703358del	GRCh38
NC_000015.9:g.66995688_66995696del , CM000677.1:g.66995688_66995696del	GRCh37
NC_000015.8:g.64782742_64782750del	NCBI36
NG_012244.1:g.6015_6023del
NG_012244.2:g.6015_6023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.92_100del MANE Select	ENSP00000288840.5:p.Gly31_Gly33del
ENST00000288840.9:c.92_100del	ENSP00000288840.5:p.Gly31_Gly33del
ENST00000557916.5:c.92_100del	ENSP00000452955.1:p.Gly31_Gly33del
ENST00000612349.1:n.274_282del
NM_005585.4:c.92_100del	NP_005576.3:p.Gly31_Gly33del
NR_027654.1:n.1015_1023del
XR_931825.1:n.1251_1259del
XR_931826.1:n.1251_1259del
XR_931827.1:n.1251_1259del
XR_931827.2:n.1241_1249del
NM_005585.5:c.92_100del MANE Select	NP_005576.3:p.Gly31_Gly33del
NR_027654.2:n.1115_1123del