Canonical Allele Identifier: CA2641838411

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51065610-T-TAGGCAAAGGTGTGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065610_51065611insAGGCAAAGGTGTGCAG , CM000680.2:g.51065610_51065611insAGGCAAAGGTGTGCAG	GRCh38
NC_000018.9:g.48591980_48591981insAGGCAAAGGTGTGCAG , CM000680.1:g.48591980_48591981insAGGCAAAGGTGTGCAG	GRCh37
NC_000018.8:g.46845978_46845979insAGGCAAAGGTGTGCAG	NCBI36
NG_013013.2:g.102571_102572insAGGCAAAGGTGTGCAG , LRG_318:g.102571_102572insAGGCAAAGGTGTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000465878.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000589076.6:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000466934.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000589941.2:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000465874.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000590061.2:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000464772.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000593223.2:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000466118.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000611848.2:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000478613.2:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000684953.1:n.2511+4_2511+5insAGGCAAAGGTGTGCAG
ENST00000685090.1:n.1590+4_1590+5insAGGCAAAGGTGTGCAG
ENST00000685232.1:n.1247+4_1247+5insAGGCAAAGGTGTGCAG
ENST00000688307.1:n.394_395insAGGCAAAGGTGTGCAG
ENST00000688574.1:n.1247+4_1247+5insAGGCAAAGGTGTGCAG
ENST00000688903.1:n.1357_1358insAGGCAAAGGTGTGCAG
ENST00000691124.1:n.2621+4_2621+5insAGGCAAAGGTGTGCAG
ENST00000342988.8:c.1139+4_1139+5insAGGCAAAGGTGTGCAG MANE Select	ENSP00000341551.3:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000342988.7:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000341551.3:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000398417.6:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	ENSP00000381452.1:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
ENST00000588745.5:c.851+4_851+5insAGGCAAAGGTGTGCAG	ENSP00000464901.1:n.851+4_851+5insAGGCAAAGGTGTGCAG
ENST00000591126.5:n.3140+4_3140+5insAGGCAAAGGTGTGCAG
ENST00000592186.5:c.955+5694_955+5695insAGGCAAAGGTGTGCAG	ENSP00000468611.1:n.955+5694_955+5695insAGGCAAAGGTGTGCAG
ENST00000611848.1:c.339+4_339+5insAGGCAAAGGTGTGCAG
NM_005359.5:c.1139+4_1139+5insAGGCAAAGGTGTGCAG , LRG_318t1:c.1139+4_1139+5insAGGCAAAGGTGTGCAG	NP_005350.1:n.1139+4_1139+5insAGGCAAAGGTGTGCAG
NM_005359.6:c.1139+4_1139+5insAGGCAAAGGTGTGCAG MANE Select	NP_005350.1:n.1139+4_1139+5insAGGCAAAGGTGTGCAG