Canonical Allele Identifier: CA272393795

Gene: SMAD3

Linked Data

• dbSNP Id: rs1029564849
• MyVariant Identifiers: chr15:g.67476769_67476771del (hg19) ; chr15:g.67184431_67184433del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184433_67184435del , CM000677.2:g.67184433_67184435del	GRCh38
NC_000015.9:g.67476771_67476773del , CM000677.1:g.67476771_67476773del	GRCh37
NC_000015.8:g.65263825_65263827del	NCBI36
NG_011990.1:g.123577_123579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.287-294_287-292del	ENSP00000454165.2:n.287-294_287-292del
ENST00000558739.2:c.557-294_557-292del	ENSP00000453684.2:n.557-294_557-292del
ENST00000558827.2:c.287-294_287-292del	ENSP00000452767.2:n.287-294_287-292del
ENST00000559460.6:c.557-294_557-292del	ENSP00000453082.2:n.557-294_557-292del
ENST00000560424.2:c.872-294_872-292del	ENSP00000455540.2:n.872-294_872-292del
ENST00000327367.9:c.872-294_872-292del MANE Select	ENSP00000332973.4:n.872-294_872-292del
ENST00000679624.1:c.557-294_557-292del	ENSP00000505445.1:n.557-294_557-292del
ENST00000680689.1:n.575-294_575-292del
ENST00000681239.1:c.557-294_557-292del	ENSP00000505641.1:n.557-294_557-292del
ENST00000327367.8:c.872-294_872-292del	ENSP00000332973.4:n.872-294_872-292del
ENST00000439724.7:c.740-294_740-292del	ENSP00000401133.3:n.740-294_740-292del
ENST00000537194.6:c.287-294_287-292del	ENSP00000445348.2:n.287-294_287-292del
ENST00000540846.6:c.557-294_557-292del	ENSP00000437757.2:n.557-294_557-292del
ENST00000558827.1:c.287-294_287-292del	ENSP00000452767.1:n.287-294_287-292del
ENST00000558894.5:c.557-2932_557-2930del	ENSP00000458060.1:n.557-2932_557-2930del
ENST00000560402.1:n.283-8440_283-8438del
NM_001145102.1:c.557-294_557-292del	NP_001138574.1:n.557-294_557-292del
NM_001145103.1:c.740-294_740-292del	NP_001138575.1:n.740-294_740-292del
NM_001145104.1:c.287-294_287-292del	NP_001138576.1:n.287-294_287-292del
NM_005902.3:c.872-294_872-292del	NP_005893.1:n.872-294_872-292del
XM_011521559.1:c.740-294_740-292del	XP_011519861.1:n.740-294_740-292del
XM_011521560.1:c.725-294_725-292del	XP_011519862.1:n.725-294_725-292del
XM_011521559.3:c.740-294_740-292del	XP_011519861.1:n.740-294_740-292del
NM_005902.4:c.872-294_872-292del MANE Select	NP_005893.1:n.872-294_872-292del
NM_001145102.2:c.557-294_557-292del	NP_001138574.1:n.557-294_557-292del
NM_001145103.2:c.740-294_740-292del	NP_001138575.1:n.740-294_740-292del
NM_001145104.2:c.287-294_287-292del	NP_001138576.1:n.287-294_287-292del