Canonical Allele Identifier: CA2302971757

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047015_51047017delinsCAT , CM000680.2:g.51047015_51047017delinsCAT	GRCh38
NC_000018.9:g.48573385_48573387delinsCAT , CM000680.1:g.48573385_48573387delinsCAT	GRCh37
NC_000018.8:g.46827383_46827385delinsCAT	NCBI36
NG_013013.2:g.83976_83978delinsCAT , LRG_318:g.83976_83978delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-32_-30delinsCAT	ENSP00000465878.2:n.-32_-30delinsCAT
ENST00000589076.6:c.-32_-30delinsCAT	ENSP00000466934.2:n.-32_-30delinsCAT
ENST00000589941.2:c.-32_-30delinsCAT	ENSP00000465874.2:n.-32_-30delinsCAT
ENST00000590061.2:c.-32_-30delinsCAT	ENSP00000464772.2:n.-32_-30delinsCAT
ENST00000593223.2:c.-32_-30delinsCAT	ENSP00000466118.2:n.-32_-30delinsCAT
ENST00000611848.2:c.-32_-30delinsCAT	ENSP00000478613.2:n.-32_-30delinsCAT
ENST00000342988.8:c.-32_-30delinsCAT MANE Select	ENSP00000341551.3:n.-32_-30delinsCAT
ENST00000342988.7:c.-32_-30delinsCAT	ENSP00000341551.3:n.-32_-30delinsCAT
ENST00000398417.6:c.-32_-30delinsCAT	ENSP00000381452.1:n.-32_-30delinsCAT
ENST00000588256.1:n.430_432delinsCAT
ENST00000588860.5:c.-32_-30delinsCAT	ENSP00000465878.1:n.-32_-30delinsCAT
ENST00000589076.5:c.-32_-30delinsCAT	ENSP00000466934.1:n.-32_-30delinsCAT
ENST00000589941.1:c.-32_-30delinsCAT	ENSP00000465874.1:n.-32_-30delinsCAT
ENST00000590061.1:c.-32_-30delinsCAT	ENSP00000464772.1:n.-32_-30delinsCAT
ENST00000590722.2:c.253_255delinsCAT	ENSP00000465737.1:p.His85=
ENST00000591914.5:c.-32_-30delinsCAT	ENSP00000466941.1:n.-32_-30delinsCAT
ENST00000592911.5:n.28-1671_28-1669delinsCAT
NM_005359.5:c.-32_-30delinsCAT , LRG_318t1:c.-32_-30delinsCAT	NP_005350.1:n.-32_-30delinsCAT
NM_005359.6:c.-32_-30delinsCAT MANE Select	NP_005350.1:n.-32_-30delinsCAT