Canonical Allele Identifier: CA2629121968

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67192135-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192136_67192137del , CM000677.2:g.67192136_67192137del	GRCh38
NC_000015.9:g.67484474_67484475del , CM000677.1:g.67484474_67484475del	GRCh37
NC_000015.8:g.65271528_65271529del	NCBI36
NG_011990.1:g.131280_131281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*1600_*1601del	ENSP00000453684.2:n.*1600_*1601del
ENST00000559460.6:c.*1600_*1601del	ENSP00000453082.2:n.*1600_*1601del
ENST00000327367.9:c.*1600_*1601del MANE Select	ENSP00000332973.4:n.*1600_*1601del
ENST00000679624.1:c.*1600_*1601del	ENSP00000505445.1:n.*1600_*1601del
ENST00000681239.1:c.*1600_*1601del	ENSP00000505641.1:n.*1600_*1601del
ENST00000327367.8:c.*1600_*1601del	ENSP00000332973.4:n.*1600_*1601del
ENST00000560402.1:n.283-737_283-736del
NM_001145102.1:c.*1600_*1601del	NP_001138574.1:n.*1600_*1601del
NM_001145103.1:c.*1600_*1601del	NP_001138575.1:n.*1600_*1601del
NM_001145104.1:c.*1600_*1601del	NP_001138576.1:n.*1600_*1601del
NM_005902.3:c.*1600_*1601del	NP_005893.1:n.*1600_*1601del
XM_011521559.1:c.*1600_*1601del	XP_011519861.1:n.*1600_*1601del
XM_011521560.1:c.*1600_*1601del	XP_011519862.1:n.*1600_*1601del
XM_011521559.3:c.*1600_*1601del	XP_011519861.1:n.*1600_*1601del
NM_005902.4:c.*1600_*1601del MANE Select	NP_005893.1:n.*1600_*1601del
NM_001145102.2:c.*1600_*1601del	NP_001138574.1:n.*1600_*1601del
NM_001145103.2:c.*1600_*1601del	NP_001138575.1:n.*1600_*1601del
NM_001145104.2:c.*1600_*1601del	NP_001138576.1:n.*1600_*1601del