Canonical Allele Identifier: CA503873946

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51059916-G-GCTCCTGA
• MyVariant Identifiers: chr18:g.48586286_48586287insCTCCTGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059916_51059917insCTCCTGA , CM000680.2:g.51059916_51059917insCTCCTGA	GRCh38
NC_000018.9:g.48586286_48586287insCTCCTGA , CM000680.1:g.48586286_48586287insCTCCTGA	GRCh37
NC_000018.8:g.46840284_46840285insCTCCTGA	NCBI36
NG_013013.2:g.96877_96878insCTCCTGA , LRG_318:g.96877_96878insCTCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.955_955+1insCTCCTGA	ENSP00000465878.2:n.955_955+1insCTCCTGA
ENST00000589076.6:c.955_955+1insCTCCTGA	ENSP00000466934.2:n.955_955+1insCTCCTGA
ENST00000589941.2:c.955_955+1insCTCCTGA	ENSP00000465874.2:n.955_955+1insCTCCTGA
ENST00000590061.2:c.955_955+1insCTCCTGA	ENSP00000464772.2:n.955_955+1insCTCCTGA
ENST00000593223.2:c.955_955+1insCTCCTGA	ENSP00000466118.2:n.955_955+1insCTCCTGA
ENST00000611848.2:c.955_955+1insCTCCTGA	ENSP00000478613.2:n.955_955+1insCTCCTGA
ENST00000684953.1:n.2327_2327+1insCTCCTGA
ENST00000685090.1:n.1406_1406+1insCTCCTGA
ENST00000685232.1:n.1063_1063+1insCTCCTGA
ENST00000688307.1:n.206_206+1insCTCCTGA
ENST00000688574.1:n.1063_1063+1insCTCCTGA
ENST00000688903.1:n.1169_1169+1insCTCCTGA
ENST00000690892.1:n.1063_1064insCTCCTGA
ENST00000342988.8:c.955_955+1insCTCCTGA MANE Select	ENSP00000341551.3:n.955_955+1insCTCCTGA
ENST00000342988.7:c.955_955+1insCTCCTGA	ENSP00000341551.3:n.955_955+1insCTCCTGA
ENST00000398417.6:c.955_955+1insCTCCTGA	ENSP00000381452.1:n.955_955+1insCTCCTGA
ENST00000588745.5:c.667+4923_667+4924insCTCCTGA	ENSP00000464901.1:n.667+4923_667+4924insCTCCTGA
ENST00000591126.5:n.2956_2956+1insCTCCTGA
ENST00000592186.5:c.955_955+1insCTCCTGA	ENSP00000468611.1:n.955_955+1insCTCCTGA
ENST00000611848.1:c.155_155+1insCTCCTGA
NM_005359.5:c.955_955+1insCTCCTGA , LRG_318t1:c.955_955+1insCTCCTGA	NP_005350.1:n.955_955+1insCTCCTGA
NM_005359.6:c.955_955+1insCTCCTGA MANE Select	NP_005350.1:n.955_955+1insCTCCTGA