Canonical Allele Identifier: CA2641839485

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078595-TTTGCTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078601_51078608del , CM000680.2:g.51078601_51078608del	GRCh38
NC_000018.9:g.48604971_48604978del , CM000680.1:g.48604971_48604978del	GRCh37
NC_000018.8:g.46858969_46858976del	NCBI36
NG_013013.2:g.115562_115569del , LRG_318:g.115562_115569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*134_*141del	ENSP00000465878.2:n.*134_*141del
ENST00000589076.6:c.*134_*141del	ENSP00000466934.2:n.*134_*141del
ENST00000589941.2:c.*134_*141del	ENSP00000465874.2:n.*134_*141del
ENST00000590061.2:c.*134_*141del	ENSP00000464772.2:n.*134_*141del
ENST00000593223.2:c.*1790_*1797del	ENSP00000466118.2:n.*1790_*1797del
ENST00000611848.2:c.*445_*452del	ENSP00000478613.2:n.*445_*452del
ENST00000684953.1:n.3808_3815del
ENST00000685090.1:n.3723_3730del
ENST00000685232.1:n.2014_2021del
ENST00000688574.1:n.1901_1908del
ENST00000691124.1:n.4754_4761del
ENST00000342988.8:c.*134_*141del MANE Select	ENSP00000341551.3:n.*134_*141del
ENST00000342988.7:c.*134_*141del	ENSP00000341551.3:n.*134_*141del
ENST00000398417.6:c.*134_*141del	ENSP00000381452.1:n.*134_*141del
ENST00000586253.1:n.515_522del
ENST00000591126.5:n.3794_3801del
ENST00000611848.1:c.1106_1113del
NM_005359.5:c.*134_*141del , LRG_318t1:c.*134_*141del	NP_005350.1:n.*134_*141del
NM_005359.6:c.*134_*141del MANE Select	NP_005350.1:n.*134_*141del