Canonical Allele Identifier: CA2629117387

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67164759-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164762_67164764del , CM000677.2:g.67164762_67164764del	GRCh38
NC_000015.9:g.67457100_67457102del , CM000677.1:g.67457100_67457102del	GRCh37
NC_000015.8:g.65244154_65244156del	NCBI36
NG_011990.1:g.103906_103908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-109-133_-109-131del	ENSP00000453684.2:n.-109-133_-109-131del
ENST00000559460.6:c.-109-133_-109-131del	ENSP00000453082.2:n.-109-133_-109-131del
ENST00000560424.2:c.207-133_207-131del	ENSP00000455540.2:n.207-133_207-131del
ENST00000327367.9:c.207-133_207-131del MANE Select	ENSP00000332973.4:n.207-133_207-131del
ENST00000679624.1:c.-109-133_-109-131del	ENSP00000505445.1:n.-109-133_-109-131del
ENST00000681239.1:c.-109-133_-109-131del	ENSP00000505641.1:n.-109-133_-109-131del
ENST00000327367.8:c.207-133_207-131del	ENSP00000332973.4:n.207-133_207-131del
ENST00000439724.7:c.75-133_75-131del	ENSP00000401133.3:n.75-133_75-131del
ENST00000540846.6:c.-109-133_-109-131del	ENSP00000437757.2:n.-109-133_-109-131del
ENST00000558739.1:c.-109-133_-109-131del	ENSP00000453684.1:n.-109-133_-109-131del
ENST00000558894.5:c.-109-133_-109-131del	ENSP00000458060.1:n.-109-133_-109-131del
ENST00000559092.1:c.152-133_152-131del	ENSP00000453788.1:n.152-133_152-131del
ENST00000559460.5:c.-109-133_-109-131del	ENSP00000453082.1:n.-109-133_-109-131del
ENST00000559937.1:n.57-133_57-131del
ENST00000560175.5:c.-109-133_-109-131del	ENSP00000455095.1:n.-109-133_-109-131del
NM_001145102.1:c.-109-133_-109-131del	NP_001138574.1:n.-109-133_-109-131del
NM_001145103.1:c.75-133_75-131del	NP_001138575.1:n.75-133_75-131del
NM_005902.3:c.207-133_207-131del	NP_005893.1:n.207-133_207-131del
XM_011521559.1:c.207-133_207-131del	XP_011519861.1:n.207-133_207-131del
XM_011521560.1:c.60-133_60-131del	XP_011519862.1:n.60-133_60-131del
XM_011521559.3:c.207-133_207-131del	XP_011519861.1:n.207-133_207-131del
NM_005902.4:c.207-133_207-131del MANE Select	NP_005893.1:n.207-133_207-131del
NM_001145102.2:c.-109-133_-109-131del	NP_001138574.1:n.-109-133_-109-131del
NM_001145103.2:c.75-133_75-131del	NP_001138575.1:n.75-133_75-131del