Canonical Allele Identifier: CA1139666071

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 942650
• ClinVar RCV Id: RCV001212673

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51068891_51078373del , CM000680.2:g.51068891_51078373del	GRCh38
NC_000018.9:g.48595261_48604743del , CM000680.1:g.48595261_48604743del	GRCh37
NC_000018.8:g.46849259_46858741del	NCBI36
NG_013013.2:g.105852_115334del , LRG_318:g.105852_115334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+1704_1565del
ENST00000589076.6:c.1308+1704_1565del
ENST00000589941.2:c.1308+1704_1565del
ENST00000590061.2:c.1308+1704_1565del
ENST00000593223.2:c.1308+1704_*1562del
ENST00000611848.2:c.1308+1704_*217del
ENST00000684953.1:n.2680+1704_3580del
ENST00000685090.1:n.1759+1704_3495del
ENST00000685232.1:n.1416+1704_1786del
ENST00000688574.1:n.1416+1704_1673del
ENST00000691124.1:n.2790+1704_4526del
ENST00000342988.8:c.1308+1704_1565del
ENST00000342988.7:c.1308+1704_1565del
ENST00000398417.6:c.1308+1704_1565del
ENST00000588745.5:c.1020+1704_1277del
ENST00000591126.5:n.3309+1704_3566del
ENST00000592186.5:c.956-7747_1212del
ENST00000611848.1:c.508+1704_878del
NM_005359.5:c.1308+1704_1565del , LRG_318t1:c.1308+1704_1565del
NM_005359.6:c.1308+1704_1565del