Canonical Allele Identifier: CA2641839535

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078637-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078646_51078647del , CM000680.2:g.51078646_51078647del	GRCh38
NC_000018.9:g.48605016_48605017del , CM000680.1:g.48605016_48605017del	GRCh37
NC_000018.8:g.46859014_46859015del	NCBI36
NG_013013.2:g.115607_115608del , LRG_318:g.115607_115608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*179_*180del	ENSP00000465878.2:n.*179_*180del
ENST00000589076.6:c.*179_*180del	ENSP00000466934.2:n.*179_*180del
ENST00000589941.2:c.*179_*180del	ENSP00000465874.2:n.*179_*180del
ENST00000590061.2:c.*179_*180del	ENSP00000464772.2:n.*179_*180del
ENST00000593223.2:c.*1835_*1836del	ENSP00000466118.2:n.*1835_*1836del
ENST00000611848.2:c.*490_*491del	ENSP00000478613.2:n.*490_*491del
ENST00000684953.1:n.3853_3854del
ENST00000685090.1:n.3768_3769del
ENST00000685232.1:n.2059_2060del
ENST00000688574.1:n.1946_1947del
ENST00000691124.1:n.4799_4800del
ENST00000342988.8:c.*179_*180del MANE Select	ENSP00000341551.3:n.*179_*180del
ENST00000342988.7:c.*179_*180del	ENSP00000341551.3:n.*179_*180del
ENST00000398417.6:c.*179_*180del	ENSP00000381452.1:n.*179_*180del
ENST00000586253.1:n.560_561del
ENST00000591126.5:n.3839_3840del
ENST00000611848.1:c.1151_1152del
NM_005359.5:c.*179_*180del , LRG_318t1:c.*179_*180del	NP_005350.1:n.*179_*180del
NM_005359.6:c.*179_*180del MANE Select	NP_005350.1:n.*179_*180del