Canonical Allele Identifier: CA618958979

Gene: SMAD6

Linked Data

• dbSNP Id: rs936063348
• gnomAD v2: 15-66995675-AGCGGCGGCG-A
• MyVariant Identifiers: chr15:g.66995676_66995684del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703342_66703350del , CM000677.2:g.66703342_66703350del	GRCh38
NC_000015.9:g.66995680_66995688del , CM000677.1:g.66995680_66995688del	GRCh37
NC_000015.8:g.64782734_64782742del	NCBI36
NG_012244.1:g.6007_6015del
NG_012244.2:g.6007_6015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.84_92del MANE Select	ENSP00000288840.5:p.Gly29_Gly31del
ENST00000288840.9:c.84_92del	ENSP00000288840.5:p.Gly29_Gly31del
ENST00000557916.5:c.84_92del	ENSP00000452955.1:p.Gly29_Gly31del
ENST00000612349.1:n.266_274del
NM_005585.4:c.84_92del	NP_005576.3:p.Gly29_Gly31del
NR_027654.1:n.1007_1015del
XR_931825.1:n.1243_1251del
XR_931826.1:n.1243_1251del
XR_931827.1:n.1243_1251del
XR_931827.2:n.1233_1241del
NM_005585.5:c.84_92del MANE Select	NP_005576.3:p.Gly29_Gly31del
NR_027654.2:n.1107_1115del