Canonical Allele Identifier: CA2812465894
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51060178_51060179insTCT , CM000680.2:g.51060178_51060179insTCT GRCh38
NC_000018.9:g.48586548_48586549insTCT , CM000680.1:g.48586548_48586549insTCT GRCh37
NC_000018.8:g.46840546_46840547insTCT NCBI36
NG_013013.2:g.97139_97140insTCT , LRG_318:g.97139_97140insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.955+262_955+263insTCT ENSP00000465878.2:n.955+262_955+263insTCT
ENST00000589076.6:c.955+262_955+263insTCT ENSP00000466934.2:n.955+262_955+263insTCT
ENST00000589941.2:c.955+262_955+263insTCT ENSP00000465874.2:n.955+262_955+263insTCT
ENST00000590061.2:c.955+262_955+263insTCT ENSP00000464772.2:n.955+262_955+263insTCT
ENST00000593223.2:c.955+262_955+263insTCT ENSP00000466118.2:n.955+262_955+263insTCT
ENST00000611848.2:c.955+262_955+263insTCT ENSP00000478613.2:n.955+262_955+263insTCT
ENST00000684953.1:n.2327+262_2327+263insTCT
ENST00000685090.1:n.1406+262_1406+263insTCT
ENST00000685232.1:n.1063+262_1063+263insTCT
ENST00000688307.1:n.206+262_206+263insTCT
ENST00000688574.1:n.1063+262_1063+263insTCT
ENST00000688903.1:n.1169+262_1169+263insTCT
ENST00000342988.8:c.955+262_955+263insTCT MANE Select ENSP00000341551.3:n.955+262_955+263insTCT
ENST00000342988.7:c.955+262_955+263insTCT ENSP00000341551.3:n.955+262_955+263insTCT
ENST00000398417.6:c.955+262_955+263insTCT ENSP00000381452.1:n.955+262_955+263insTCT
ENST00000588745.5:c.667+5185_667+5186insTCT ENSP00000464901.1:n.667+5185_667+5186insTCT
ENST00000591126.5:n.2956+262_2956+263insTCT
ENST00000592186.5:c.955+262_955+263insTCT ENSP00000468611.1:n.955+262_955+263insTCT
ENST00000611848.1:c.155+262_155+263insTCT
NM_005359.5:c.955+262_955+263insTCT , LRG_318t1:c.955+262_955+263insTCT NP_005350.1:n.955+262_955+263insTCT
NM_005359.6:c.955+262_955+263insTCT MANE Select NP_005350.1:n.955+262_955+263insTCT