Canonical Allele Identifier: CA2629117421

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67164787-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164789_67164791del , CM000677.2:g.67164789_67164791del	GRCh38
NC_000015.9:g.67457127_67457129del , CM000677.1:g.67457127_67457129del	GRCh37
NC_000015.8:g.65244181_65244183del	NCBI36
NG_011990.1:g.103933_103935del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-109-106_-109-104del	ENSP00000453684.2:n.-109-106_-109-104del
ENST00000559460.6:c.-109-106_-109-104del	ENSP00000453082.2:n.-109-106_-109-104del
ENST00000560424.2:c.207-106_207-104del	ENSP00000455540.2:n.207-106_207-104del
ENST00000327367.9:c.207-106_207-104del MANE Select	ENSP00000332973.4:n.207-106_207-104del
ENST00000679624.1:c.-109-106_-109-104del	ENSP00000505445.1:n.-109-106_-109-104del
ENST00000681239.1:c.-109-106_-109-104del	ENSP00000505641.1:n.-109-106_-109-104del
ENST00000327367.8:c.207-106_207-104del	ENSP00000332973.4:n.207-106_207-104del
ENST00000439724.7:c.75-106_75-104del	ENSP00000401133.3:n.75-106_75-104del
ENST00000540846.6:c.-109-106_-109-104del	ENSP00000437757.2:n.-109-106_-109-104del
ENST00000558739.1:c.-109-106_-109-104del	ENSP00000453684.1:n.-109-106_-109-104del
ENST00000558894.5:c.-109-106_-109-104del	ENSP00000458060.1:n.-109-106_-109-104del
ENST00000559092.1:c.152-106_152-104del	ENSP00000453788.1:n.152-106_152-104del
ENST00000559460.5:c.-109-106_-109-104del	ENSP00000453082.1:n.-109-106_-109-104del
ENST00000559937.1:n.57-106_57-104del
ENST00000560175.5:c.-109-106_-109-104del	ENSP00000455095.1:n.-109-106_-109-104del
NM_001145102.1:c.-109-106_-109-104del	NP_001138574.1:n.-109-106_-109-104del
NM_001145103.1:c.75-106_75-104del	NP_001138575.1:n.75-106_75-104del
NM_005902.3:c.207-106_207-104del	NP_005893.1:n.207-106_207-104del
XM_011521559.1:c.207-106_207-104del	XP_011519861.1:n.207-106_207-104del
XM_011521560.1:c.60-106_60-104del	XP_011519862.1:n.60-106_60-104del
XM_011521559.3:c.207-106_207-104del	XP_011519861.1:n.207-106_207-104del
NM_005902.4:c.207-106_207-104del MANE Select	NP_005893.1:n.207-106_207-104del
NM_001145102.2:c.-109-106_-109-104del	NP_001138574.1:n.-109-106_-109-104del
NM_001145103.2:c.75-106_75-104del	NP_001138575.1:n.75-106_75-104del