Canonical Allele Identifier: CA2641839456

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078538-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078541_51078543del , CM000680.2:g.51078541_51078543del	GRCh38
NC_000018.9:g.48604911_48604913del , CM000680.1:g.48604911_48604913del	GRCh37
NC_000018.8:g.46858909_46858911del	NCBI36
NG_013013.2:g.115502_115504del , LRG_318:g.115502_115504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*74_*76del	ENSP00000465878.2:n.*74_*76del
ENST00000589076.6:c.*74_*76del	ENSP00000466934.2:n.*74_*76del
ENST00000589941.2:c.*74_*76del	ENSP00000465874.2:n.*74_*76del
ENST00000590061.2:c.*74_*76del	ENSP00000464772.2:n.*74_*76del
ENST00000593223.2:c.*1730_*1732del	ENSP00000466118.2:n.*1730_*1732del
ENST00000611848.2:c.*385_*387del	ENSP00000478613.2:n.*385_*387del
ENST00000684953.1:n.3748_3750del
ENST00000685090.1:n.3663_3665del
ENST00000685232.1:n.1954_1956del
ENST00000688574.1:n.1841_1843del
ENST00000691124.1:n.4694_4696del
ENST00000342988.8:c.*74_*76del MANE Select	ENSP00000341551.3:n.*74_*76del
ENST00000342988.7:c.*74_*76del	ENSP00000341551.3:n.*74_*76del
ENST00000398417.6:c.*74_*76del	ENSP00000381452.1:n.*74_*76del
ENST00000586253.1:n.455_457del
ENST00000591126.5:n.3734_3736del
ENST00000611848.1:c.1046_1048del
NM_005359.5:c.*74_*76del , LRG_318t1:c.*74_*76del	NP_005350.1:n.*74_*76del
NM_005359.6:c.*74_*76del MANE Select	NP_005350.1:n.*74_*76del