Canonical Allele Identifier: CA2302980834
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065774_51065777delinsCGGT , CM000680.2:g.51065774_51065777delinsCGGT GRCh38
NC_000018.9:g.48592144_48592147delinsCGGT , CM000680.1:g.48592144_48592147delinsCGGT GRCh37
NC_000018.8:g.46846142_46846145delinsCGGT NCBI36
NG_013013.2:g.102735_102738delinsCGGT , LRG_318:g.102735_102738delinsCGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1139+168_1139+171delinsCGGT ENSP00000465878.2:n.1139+168_1139+171delinsCGGT
ENST00000589076.6:c.1139+168_1139+171delinsCGGT ENSP00000466934.2:n.1139+168_1139+171delinsCGGT
ENST00000589941.2:c.1139+168_1139+171delinsCGGT ENSP00000465874.2:n.1139+168_1139+171delinsCGGT
ENST00000590061.2:c.1139+168_1139+171delinsCGGT ENSP00000464772.2:n.1139+168_1139+171delinsCGGT
ENST00000593223.2:c.1139+168_1139+171delinsCGGT ENSP00000466118.2:n.1139+168_1139+171delinsCGGT
ENST00000611848.2:c.1139+168_1139+171delinsCGGT ENSP00000478613.2:n.1139+168_1139+171delinsCGGT
ENST00000684953.1:n.2511+168_2511+171delinsCGGT
ENST00000685090.1:n.1590+168_1590+171delinsCGGT
ENST00000685232.1:n.1247+168_1247+171delinsCGGT
ENST00000688307.1:n.558_561delinsCGGT
ENST00000688574.1:n.1247+168_1247+171delinsCGGT
ENST00000688903.1:n.1521_1524delinsCGGT
ENST00000691124.1:n.2621+168_2621+171delinsCGGT
ENST00000342988.8:c.1139+168_1139+171delinsCGGT MANE Select ENSP00000341551.3:n.1139+168_1139+171delinsCGGT
ENST00000342988.7:c.1139+168_1139+171delinsCGGT ENSP00000341551.3:n.1139+168_1139+171delinsCGGT
ENST00000398417.6:c.1139+168_1139+171delinsCGGT ENSP00000381452.1:n.1139+168_1139+171delinsCGGT
ENST00000588745.5:c.851+168_851+171delinsCGGT ENSP00000464901.1:n.851+168_851+171delinsCGGT
ENST00000591126.5:n.3140+168_3140+171delinsCGGT
ENST00000592186.5:c.955+5858_955+5861delinsCGGT ENSP00000468611.1:n.955+5858_955+5861delinsCGGT
ENST00000611848.1:c.339+168_339+171delinsCGGT
NM_005359.5:c.1139+168_1139+171delinsCGGT , LRG_318t1:c.1139+168_1139+171delinsCGGT NP_005350.1:n.1139+168_1139+171delinsCGGT
NM_005359.6:c.1139+168_1139+171delinsCGGT MANE Select NP_005350.1:n.1139+168_1139+171delinsCGGT