Canonical Allele Identifier: CA2580613856

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2507219
• ClinVar RCV Id: RCV003239110

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703297_66703298del , CM000677.2:g.66703297_66703298del	GRCh38
NC_000015.9:g.66995635_66995636del , CM000677.1:g.66995635_66995636del	GRCh37
NC_000015.8:g.64782689_64782690del	NCBI36
NG_012244.1:g.5962_5963del
NG_012244.2:g.5962_5963del

Transcript Alleles

HGVS	Amino-acid change
ENST00000288840.10:c.39_40del MANE Select	ENSP00000288840.5:p.Trp14AlafsTer?
ENST00000288840.9:c.39_40del	ENSP00000288840.5:p.Trp14AlafsTer?
ENST00000557916.5:c.39_40del	ENSP00000452955.1:p.Trp14AlafsTer?
ENST00000612349.1:n.221_222del
NM_005585.4:c.39_40del	NP_005576.3:p.Trp14AlafsTer?
NR_027654.1:n.962_963del
XR_931825.1:n.1198_1199del
XR_931826.1:n.1198_1199del
XR_931827.1:n.1198_1199del
XR_931827.2:n.1188_1189del
NM_005585.5:c.39_40del MANE Select	NP_005576.3:p.Trp14AlafsTer?
NR_027654.2:n.1062_1063del