Canonical Allele Identifier: CA2641839424

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078380-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078381_51078382del , CM000680.2:g.51078381_51078382del	GRCh38
NC_000018.9:g.48604751_48604752del , CM000680.1:g.48604751_48604752del	GRCh37
NC_000018.8:g.46858749_46858750del	NCBI36
NG_013013.2:g.115342_115343del , LRG_318:g.115342_115343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1573_1574del	ENSP00000465878.2:p.Ile525Ter
ENST00000589076.6:c.1573_1574del	ENSP00000466934.2:p.Ile525Ter
ENST00000589941.2:c.1573_1574del	ENSP00000465874.2:p.Ile525Ter
ENST00000590061.2:c.1573_1574del	ENSP00000464772.2:p.Ile525Ter
ENST00000593223.2:c.*1570_*1571del	ENSP00000466118.2:n.*1570_*1571del
ENST00000611848.2:c.*225_*226del	ENSP00000478613.2:n.*225_*226del
ENST00000684953.1:n.3588_3589del
ENST00000685090.1:n.3503_3504del
ENST00000685232.1:n.1794_1795del
ENST00000688574.1:n.1681_1682del
ENST00000691124.1:n.4534_4535del
ENST00000342988.8:c.1573_1574del MANE Select	ENSP00000341551.3:p.Ile525Ter
ENST00000342988.7:c.1573_1574del	ENSP00000341551.3:p.Ile525Ter
ENST00000398417.6:c.1573_1574del	ENSP00000381452.1:p.Ile525Ter
ENST00000586253.1:n.295_296del
ENST00000588745.5:c.1285_1286del	ENSP00000464901.1:p.Ile429Ter
ENST00000591126.5:n.3574_3575del
ENST00000592186.5:c.1220_1221del	ENSP00000468611.1:n.1220_1221del
ENST00000611848.1:c.886_887del
NM_005359.5:c.1573_1574del , LRG_318t1:c.1573_1574del	NP_005350.1:p.Ile525Ter
NM_005359.6:c.1573_1574del MANE Select	NP_005350.1:p.Ile525Ter