Canonical Allele Identifier: CA2629117499

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67165147-G-GGGGGGATGGGGAGCGGGGGAGAGGTGATGACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165148_67165149insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG , CM000677.2:g.67165148_67165149insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	GRCh38
NC_000015.9:g.67457486_67457487insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG , CM000677.1:g.67457486_67457487insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	GRCh37
NC_000015.8:g.65244540_65244541insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NCBI36
NG_011990.1:g.104292_104293insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000453684.2:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000559460.6:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000453082.2:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000560424.2:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000455540.2:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTG...
ENST00000327367.9:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG MANE Select	ENSP00000332973.4:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTG...
ENST00000679624.1:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000505445.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000681239.1:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000505641.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000327367.8:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000332973.4:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTG...
ENST00000439724.7:c.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000401133.3:n.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTG...
ENST00000540846.6:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000437757.2:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000558739.1:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000453684.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000558894.5:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000458060.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000559460.5:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000453082.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
ENST00000559937.1:n.250+60_250+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG
ENST00000560175.5:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	ENSP00000455095.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGAT...
NM_001145102.1:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NP_001138574.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGAC...
NM_001145103.1:c.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NP_001138575.1:n.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTGATG...
NM_005902.3:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NP_005893.1:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACC...
XM_011521559.1:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	XP_011519861.1:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATG...
XM_011521560.1:c.253+60_253+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	XP_011519862.1:n.253+60_253+61insGGGGATGGGGAGCGGGGGAGAGGTGATG...
XM_011521559.3:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	XP_011519861.1:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATG...
NM_005902.4:c.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG MANE Select	NP_005893.1:n.400+60_400+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACC...
NM_001145102.2:c.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NP_001138574.1:n.85+60_85+61insGGGGATGGGGAGCGGGGGAGAGGTGATGAC...
NM_001145103.2:c.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTGATGACCCCG	NP_001138575.1:n.268+60_268+61insGGGGATGGGGAGCGGGGGAGAGGTGATG...