Canonical Allele Identifier: CA2629121572

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67187649-G-GAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187649_67187650insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT , CM000677.2:g.67187649_67187650insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	GRCh38
NC_000015.9:g.67479987_67479988insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT , CM000677.1:g.67479987_67479988insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	GRCh37
NC_000015.8:g.65267041_65267042insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NCBI36
NG_011990.1:g.126793_126794insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000454165.2:n.569+140_569+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000558739.2:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000453684.2:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000558827.2:c.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000452767.2:n.569+140_569+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000559460.6:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000453082.2:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000560424.2:c.1265+140_1265+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000455540.2:n.1265+140_1265+141insAGGGCAGAGTTCTAGACACAG...
ENST00000327367.9:c.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT MANE Select	ENSP00000332973.4:n.1154+140_1154+141insAGGGCAGAGTTCTAGACACAG...
ENST00000679624.1:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000505445.1:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000680689.1:n.857+140_857+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT
ENST00000681239.1:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000505641.1:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000327367.8:c.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000332973.4:n.1154+140_1154+141insAGGGCAGAGTTCTAGACACAG...
ENST00000439724.7:c.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000401133.3:n.1022+140_1022+141insAGGGCAGAGTTCTAGACACAG...
ENST00000537194.6:c.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000445348.2:n.569+140_569+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000540846.6:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	ENSP00000437757.2:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCT...
ENST00000558763.1:n.848+140_848+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT
ENST00000560402.1:n.283-5224_283-5223insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT
ENST00000560424.1:c.346+140_346+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT
NM_001145102.1:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138574.1:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTT...
NM_001145103.1:c.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138575.1:n.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTC...
NM_001145104.1:c.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138576.1:n.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTT...
NM_005902.3:c.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_005893.1:n.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTC...
XM_011521559.1:c.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	XP_011519861.1:n.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTC...
XM_011521560.1:c.1007+140_1007+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	XP_011519862.1:n.1007+140_1007+141insAGGGCAGAGTTCTAGACACAGCTC...
XM_011521559.3:c.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	XP_011519861.1:n.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTC...
NM_005902.4:c.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT MANE Select	NP_005893.1:n.1154+140_1154+141insAGGGCAGAGTTCTAGACACAGCTCTTC...
NM_001145102.2:c.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138574.1:n.839+140_839+141insAGGGCAGAGTTCTAGACACAGCTCTT...
NM_001145103.2:c.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138575.1:n.1022+140_1022+141insAGGGCAGAGTTCTAGACACAGCTC...
NM_001145104.2:c.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTTCTACCAGT	NP_001138576.1:n.569+140_569+141insAGGGCAGAGTTCTAGACACAGCTCTT...