Canonical Allele Identifier: CA715090953

Gene: SMAD3

Linked Data

• dbSNP Id: rs1323217582
• MyVariant Identifiers: chr15:g.67485178_67485179del (hg19) ; chr15:g.67192840_67192841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192842_67192843del , CM000677.2:g.67192842_67192843del	GRCh38
NC_000015.9:g.67485180_67485181del , CM000677.1:g.67485180_67485181del	GRCh37
NC_000015.8:g.65272234_65272235del	NCBI36
NG_011990.1:g.131986_131987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*2306_*2307del	ENSP00000453684.2:n.*2306_*2307del
ENST00000559460.6:c.*2306_*2307del	ENSP00000453082.2:n.*2306_*2307del
ENST00000327367.9:c.*2306_*2307del MANE Select	ENSP00000332973.4:n.*2306_*2307del
ENST00000679624.1:c.*2306_*2307del	ENSP00000505445.1:n.*2306_*2307del
ENST00000681239.1:c.*2306_*2307del	ENSP00000505641.1:n.*2306_*2307del
ENST00000327367.8:c.*2306_*2307del	ENSP00000332973.4:n.*2306_*2307del
ENST00000560402.1:n.283-31_283-30del
NM_001145102.1:c.*2306_*2307del	NP_001138574.1:n.*2306_*2307del
NM_001145103.1:c.*2306_*2307del	NP_001138575.1:n.*2306_*2307del
NM_001145104.1:c.*2306_*2307del	NP_001138576.1:n.*2306_*2307del
NM_005902.3:c.*2306_*2307del	NP_005893.1:n.*2306_*2307del
XM_011521559.1:c.*2306_*2307del	XP_011519861.1:n.*2306_*2307del
XM_011521560.1:c.*2306_*2307del	XP_011519862.1:n.*2306_*2307del
XM_011521559.3:c.*2306_*2307del	XP_011519861.1:n.*2306_*2307del
NM_005902.4:c.*2306_*2307del MANE Select	NP_005893.1:n.*2306_*2307del
NM_001145102.2:c.*2306_*2307del	NP_001138574.1:n.*2306_*2307del
NM_001145103.2:c.*2306_*2307del	NP_001138575.1:n.*2306_*2307del
NM_001145104.2:c.*2306_*2307del	NP_001138576.1:n.*2306_*2307del