Canonical Allele Identifier: CA319759

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213806
• ClinVar RCV Id: RCV000195420
• dbSNP Id: rs863223769
• MyVariant Identifiers: chr15:g.67358602_67358607del (hg19) ; chr15:g.67066264_67066269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066264_67066269del , CM000677.2:g.67066264_67066269del	GRCh38
NC_000015.9:g.67358602_67358607del , CM000677.1:g.67358602_67358607del	GRCh37
NC_000015.8:g.65145656_65145661del	NCBI36
NG_011990.1:g.5408_5413del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559460.6:c.-110+2320_-110+2325del	ENSP00000453082.2:n.-110+2320_-110+2325de...
ENST00000560424.2:c.110_115del	ENSP00000455540.2:p.Ser37_Val39delinsIle
ENST00000327367.9:c.110_115del MANE Select	ENSP00000332973.4:p.Ser37_Val39delinsIle
ENST00000327367.8:c.110_115del	ENSP00000332973.4:p.Ser37_Val39delinsIle
ENST00000559460.5:c.-110+2320_-110+2325del	ENSP00000453082.1:n.-110+2320_-110+2325de...
NM_005902.3:c.110_115del	NP_005893.1:p.Ser37_Val39delinsIle
XM_011521559.1:c.110_115del	XP_011519861.1:p.Ser37_Val39delinsIle
XM_011521559.3:c.110_115del	XP_011519861.1:p.Ser37_Val39delinsIle
NM_005902.4:c.110_115del MANE Select	NP_005893.1:p.Ser37_Val39delinsIle