Canonical Allele Identifier: CA2184423157

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192300_67192303delinsTGAG , CM000677.2:g.67192300_67192303delinsTGAG	GRCh38
NC_000015.9:g.67484638_67484641delinsTGAG , CM000677.1:g.67484638_67484641delinsTGAG	GRCh37
NC_000015.8:g.65271692_65271695delinsTGAG	NCBI36
NG_011990.1:g.131444_131447delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*1764_*1767delinsTGAG	ENSP00000453684.2:n.*1764_*1767delinsTGAG
ENST00000559460.6:c.*1764_*1767delinsTGAG	ENSP00000453082.2:n.*1764_*1767delinsTGAG
ENST00000327367.9:c.*1764_*1767delinsTGAG MANE Select	ENSP00000332973.4:n.*1764_*1767delinsTGAG
ENST00000679624.1:c.*1764_*1767delinsTGAG	ENSP00000505445.1:n.*1764_*1767delinsTGAG
ENST00000681239.1:c.*1764_*1767delinsTGAG	ENSP00000505641.1:n.*1764_*1767delinsTGAG
ENST00000327367.8:c.*1764_*1767delinsTGAG	ENSP00000332973.4:n.*1764_*1767delinsTGAG
ENST00000560402.1:n.283-573_283-570delinsTGAG
NM_001145102.1:c.*1764_*1767delinsTGAG	NP_001138574.1:n.*1764_*1767delinsTGAG
NM_001145103.1:c.*1764_*1767delinsTGAG	NP_001138575.1:n.*1764_*1767delinsTGAG
NM_001145104.1:c.*1764_*1767delinsTGAG	NP_001138576.1:n.*1764_*1767delinsTGAG
NM_005902.3:c.*1764_*1767delinsTGAG	NP_005893.1:n.*1764_*1767delinsTGAG
XM_011521559.1:c.*1764_*1767delinsTGAG	XP_011519861.1:n.*1764_*1767delinsTGAG
XM_011521560.1:c.*1764_*1767delinsTGAG	XP_011519862.1:n.*1764_*1767delinsTGAG
XM_011521559.3:c.*1764_*1767delinsTGAG	XP_011519861.1:n.*1764_*1767delinsTGAG
NM_005902.4:c.*1764_*1767delinsTGAG MANE Select	NP_005893.1:n.*1764_*1767delinsTGAG
NM_001145102.2:c.*1764_*1767delinsTGAG	NP_001138574.1:n.*1764_*1767delinsTGAG
NM_001145103.2:c.*1764_*1767delinsTGAG	NP_001138575.1:n.*1764_*1767delinsTGAG
NM_001145104.2:c.*1764_*1767delinsTGAG	NP_001138576.1:n.*1764_*1767delinsTGAG