Canonical Allele Identifier: CA990250513

Gene: SMAD4

Linked Data

• gnomAD v3: 18-51066951-C-CT
• gnomAD v4: 18-51066951-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066951_51066952insT , CM000680.2:g.51066951_51066952insT	GRCh38
NC_000018.9:g.48593321_48593322insT , CM000680.1:g.48593321_48593322insT	GRCh37
NC_000018.8:g.46847319_46847320insT	NCBI36
NG_013013.2:g.103912_103913insT , LRG_318:g.103912_103913insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-68_1140-67insT	ENSP00000465878.2:n.1140-68_1140-67insT
ENST00000589076.6:c.1140-68_1140-67insT	ENSP00000466934.2:n.1140-68_1140-67insT
ENST00000589941.2:c.1140-68_1140-67insT	ENSP00000465874.2:n.1140-68_1140-67insT
ENST00000590061.2:c.1140-68_1140-67insT	ENSP00000464772.2:n.1140-68_1140-67insT
ENST00000593223.2:c.1140-68_1140-67insT	ENSP00000466118.2:n.1140-68_1140-67insT
ENST00000611848.2:c.1140-68_1140-67insT	ENSP00000478613.2:n.1140-68_1140-67insT
ENST00000684953.1:n.2512-68_2512-67insT
ENST00000685090.1:n.1591-68_1591-67insT
ENST00000685232.1:n.1248-68_1248-67insT
ENST00000688574.1:n.1248-68_1248-67insT
ENST00000691124.1:n.2622-68_2622-67insT
ENST00000342988.8:c.1140-68_1140-67insT MANE Select	ENSP00000341551.3:n.1140-68_1140-67insT
ENST00000342988.7:c.1140-68_1140-67insT	ENSP00000341551.3:n.1140-68_1140-67insT
ENST00000398417.6:c.1140-68_1140-67insT	ENSP00000381452.1:n.1140-68_1140-67insT
ENST00000588745.5:c.852-68_852-67insT	ENSP00000464901.1:n.852-68_852-67insT
ENST00000590499.1:n.130_131insT
ENST00000591126.5:n.3141-68_3141-67insT
ENST00000592186.5:c.955+7035_955+7036insT	ENSP00000468611.1:n.955+7035_955+7036insT
ENST00000611848.1:c.340-68_340-67insT
NM_005359.5:c.1140-68_1140-67insT , LRG_318t1:c.1140-68_1140-67insT	NP_005350.1:n.1140-68_1140-67insT
NM_005359.6:c.1140-68_1140-67insT MANE Select	NP_005350.1:n.1140-68_1140-67insT