Canonical Allele Identifier: CA2629117456

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67164867-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164871_67164874del , CM000677.2:g.67164871_67164874del	GRCh38
NC_000015.9:g.67457209_67457212del , CM000677.1:g.67457209_67457212del	GRCh37
NC_000015.8:g.65244263_65244266del	NCBI36
NG_011990.1:g.104015_104018del

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-109-24_-109-21del	ENSP00000453684.2:n.-109-24_-109-21del
ENST00000559460.6:c.-109-24_-109-21del	ENSP00000453082.2:n.-109-24_-109-21del
ENST00000560424.2:c.207-24_207-21del	ENSP00000455540.2:n.207-24_207-21del
ENST00000327367.9:c.207-24_207-21del MANE Select	ENSP00000332973.4:n.207-24_207-21del
ENST00000679624.1:c.-109-24_-109-21del	ENSP00000505445.1:n.-109-24_-109-21del
ENST00000681239.1:c.-109-24_-109-21del	ENSP00000505641.1:n.-109-24_-109-21del
ENST00000327367.8:c.207-24_207-21del	ENSP00000332973.4:n.207-24_207-21del
ENST00000439724.7:c.75-24_75-21del	ENSP00000401133.3:n.75-24_75-21del
ENST00000540846.6:c.-109-24_-109-21del	ENSP00000437757.2:n.-109-24_-109-21del
ENST00000558739.1:c.-109-24_-109-21del	ENSP00000453684.1:n.-109-24_-109-21del
ENST00000558894.5:c.-109-24_-109-21del	ENSP00000458060.1:n.-109-24_-109-21del
ENST00000559092.1:c.152-24_152-21del	ENSP00000453788.1:n.152-24_152-21del
ENST00000559460.5:c.-109-24_-109-21del	ENSP00000453082.1:n.-109-24_-109-21del
ENST00000559937.1:n.57-24_57-21del
ENST00000560175.5:c.-109-24_-109-21del	ENSP00000455095.1:n.-109-24_-109-21del
NM_001145102.1:c.-109-24_-109-21del	NP_001138574.1:n.-109-24_-109-21del
NM_001145103.1:c.75-24_75-21del	NP_001138575.1:n.75-24_75-21del
NM_005902.3:c.207-24_207-21del	NP_005893.1:n.207-24_207-21del
XM_011521559.1:c.207-24_207-21del	XP_011519861.1:n.207-24_207-21del
XM_011521560.1:c.60-24_60-21del	XP_011519862.1:n.60-24_60-21del
XM_011521559.3:c.207-24_207-21del	XP_011519861.1:n.207-24_207-21del
NM_005902.4:c.207-24_207-21del MANE Select	NP_005893.1:n.207-24_207-21del
NM_001145102.2:c.-109-24_-109-21del	NP_001138574.1:n.-109-24_-109-21del
NM_001145103.2:c.75-24_75-21del	NP_001138575.1:n.75-24_75-21del