Canonical Allele Identifier: CA2595187577

Gene: SMAD3

Linked Data

• gnomAD v3: 15-67175884-C-CGGTCTTCCCCACACTTGTGAAATCACAGGCAGGGTCTTCCCCACACTTGTGAAATCACAGGCAG
• gnomAD v4: 15-67175884-C-CGGTCTTCCCCACACTTGTGAAATCACAGGCAGGGTCTTCCCCACACTTGTGAAATCACAGGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67175886_67175949dup , CM000677.2:g.67175886_67175949dup	GRCh38
NC_000015.9:g.67468224_67468287dup , CM000677.1:g.67468224_67468287dup	GRCh37
NC_000015.8:g.65255278_65255341dup	NCBI36
NG_011990.1:g.115030_115093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.73+5282_74-5292dup	ENSP00000454165.2:n.73+5282_74-5292dup
ENST00000558739.2:c.343+5282_344-5292dup	ENSP00000453684.2:n.343+5282_344-5292dup
ENST00000558827.2:c.73+5282_74-5292dup	ENSP00000452767.2:n.73+5282_74-5292dup
ENST00000559460.6:c.343+5282_344-5292dup	ENSP00000453082.2:n.343+5282_344-5292dup
ENST00000560424.2:c.658+5282_659-5292dup	ENSP00000455540.2:n.658+5282_659-5292dup
ENST00000327367.9:c.658+5282_659-5292dup MANE Select	ENSP00000332973.4:n.658+5282_659-5292dup
ENST00000679624.1:c.343+5282_344-5292dup	ENSP00000505445.1:n.343+5282_344-5292dup
ENST00000681239.1:c.343+5282_344-5292dup	ENSP00000505641.1:n.343+5282_344-5292dup
ENST00000327367.8:c.658+5282_659-5292dup	ENSP00000332973.4:n.658+5282_659-5292dup
ENST00000439724.7:c.526+5282_527-5292dup	ENSP00000401133.3:n.526+5282_527-5292dup
ENST00000537194.6:c.73+5282_74-5292dup	ENSP00000445348.2:n.73+5282_74-5292dup
ENST00000540846.6:c.343+5282_344-5292dup	ENSP00000437757.2:n.343+5282_344-5292dup
ENST00000558428.5:c.73+5282_74-5292dup	ENSP00000454165.1:n.73+5282_74-5292dup
ENST00000558827.1:c.73+5282_74-5292dup	ENSP00000452767.1:n.73+5282_74-5292dup
ENST00000558894.5:c.343+5282_344-5292dup	ENSP00000458060.1:n.343+5282_344-5292dup
ENST00000560402.1:n.282+1302_282+1365dup
NM_001145102.1:c.343+5282_344-5292dup	NP_001138574.1:n.343+5282_344-5292dup
NM_001145103.1:c.526+5282_527-5292dup	NP_001138575.1:n.526+5282_527-5292dup
NM_001145104.1:c.73+5282_74-5292dup	NP_001138576.1:n.73+5282_74-5292dup
NM_005902.3:c.658+5282_659-5292dup	NP_005893.1:n.658+5282_659-5292dup
XM_011521559.1:c.526+5282_527-5292dup	XP_011519861.1:n.526+5282_527-5292dup
XM_011521560.1:c.511+5282_512-5292dup	XP_011519862.1:n.511+5282_512-5292dup
XM_011521559.3:c.526+5282_527-5292dup	XP_011519861.1:n.526+5282_527-5292dup
NM_005902.4:c.658+5282_659-5292dup MANE Select	NP_005893.1:n.658+5282_659-5292dup
NM_001145102.2:c.343+5282_344-5292dup	NP_001138574.1:n.343+5282_344-5292dup
NM_001145103.2:c.526+5282_527-5292dup	NP_001138575.1:n.526+5282_527-5292dup
NM_001145104.2:c.73+5282_74-5292dup	NP_001138576.1:n.73+5282_74-5292dup