Canonical Allele Identifier: CA8965991

Gene: SMAD4

Linked Data

• dbSNP Id: rs587782629
• ExAC: 18:48591978 T / TTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
• gnomAD v2: 18-48591978-T-TTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
• gnomAD v3: 18-51065608-T-TTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
• gnomAD v4: 18-51065608-T-TTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
• MyVariant Identifiers: chr18:g.48591978_48591979insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA (hg19) ; chr18:g.51065608_51065609insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065608_51065609insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA , CM000680.2:g.51065608_51065609insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	GRCh38
NC_000018.9:g.48591978_48591979insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA , CM000680.1:g.48591978_48591979insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	GRCh37
NC_000018.8:g.46845976_46845977insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	NCBI36
NG_013013.2:g.102569_102570insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA , LRG_318:g.102569_102570insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000465878.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000589076.6:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000466934.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000589941.2:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000465874.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000590061.2:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000464772.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000593223.2:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000466118.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000611848.2:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000478613.2:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000684953.1:n.2511+2_2511+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000685090.1:n.1590+2_1590+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000685232.1:n.1247+2_1247+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000688307.1:n.392_393insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000688574.1:n.1247+2_1247+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000688903.1:n.1355_1356insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000691124.1:n.2621+2_2621+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000342988.8:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA MANE Select	ENSP00000341551.3:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000342988.7:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000341551.3:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000398417.6:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000381452.1:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTT...
ENST00000588745.5:c.851+2_851+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000464901.1:n.851+2_851+3insTGCACATAGGCAAAGGTGTGCAGTTGG...
ENST00000591126.5:n.3140+2_3140+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
ENST00000592186.5:c.955+5692_955+5693insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	ENSP00000468611.1:n.955+5692_955+5693insTGCACATAGGCAAAGGTGTGC...
ENST00000611848.1:c.339+2_339+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA
NM_005359.5:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA , LRG_318t1:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA	NP_005350.1:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATG...
NM_005359.6:c.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGA MANE Select	NP_005350.1:n.1139+2_1139+3insTGCACATAGGCAAAGGTGTGCAGTTGGAATG...