Canonical Allele Identifier: CA2302980840

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065781_51065784delinsTTTG , CM000680.2:g.51065781_51065784delinsTTTG	GRCh38
NC_000018.9:g.48592151_48592154delinsTTTG , CM000680.1:g.48592151_48592154delinsTTTG	GRCh37
NC_000018.8:g.46846149_46846152delinsTTTG	NCBI36
NG_013013.2:g.102742_102745delinsTTTG , LRG_318:g.102742_102745delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+175_1139+178delinsTTTG	ENSP00000465878.2:n.1139+175_1139+178delinsTTTG
ENST00000589076.6:c.1139+175_1139+178delinsTTTG	ENSP00000466934.2:n.1139+175_1139+178delinsTTTG
ENST00000589941.2:c.1139+175_1139+178delinsTTTG	ENSP00000465874.2:n.1139+175_1139+178delinsTTTG
ENST00000590061.2:c.1139+175_1139+178delinsTTTG	ENSP00000464772.2:n.1139+175_1139+178delinsTTTG
ENST00000593223.2:c.1139+175_1139+178delinsTTTG	ENSP00000466118.2:n.1139+175_1139+178delinsTTTG
ENST00000611848.2:c.1139+175_1139+178delinsTTTG	ENSP00000478613.2:n.1139+175_1139+178delinsTTTG
ENST00000684953.1:n.2511+175_2511+178delinsTTTG
ENST00000685090.1:n.1590+175_1590+178delinsTTTG
ENST00000685232.1:n.1247+175_1247+178delinsTTTG
ENST00000688307.1:n.565_568delinsTTTG
ENST00000688574.1:n.1247+175_1247+178delinsTTTG
ENST00000688903.1:n.1528_1531delinsTTTG
ENST00000691124.1:n.2621+175_2621+178delinsTTTG
ENST00000342988.8:c.1139+175_1139+178delinsTTTG MANE Select	ENSP00000341551.3:n.1139+175_1139+178delinsTTTG
ENST00000342988.7:c.1139+175_1139+178delinsTTTG	ENSP00000341551.3:n.1139+175_1139+178delinsTTTG
ENST00000398417.6:c.1139+175_1139+178delinsTTTG	ENSP00000381452.1:n.1139+175_1139+178delinsTTTG
ENST00000588745.5:c.851+175_851+178delinsTTTG	ENSP00000464901.1:n.851+175_851+178delinsTTTG
ENST00000591126.5:n.3140+175_3140+178delinsTTTG
ENST00000592186.5:c.955+5865_955+5868delinsTTTG	ENSP00000468611.1:n.955+5865_955+5868delinsTTTG
ENST00000611848.1:c.339+175_339+178delinsTTTG
NM_005359.5:c.1139+175_1139+178delinsTTTG , LRG_318t1:c.1139+175_1139+178delinsTTTG	NP_005350.1:n.1139+175_1139+178delinsTTTG
NM_005359.6:c.1139+175_1139+178delinsTTTG MANE Select	NP_005350.1:n.1139+175_1139+178delinsTTTG