Canonical Allele Identifier: CA2641864531
Gene: SMAD4 HGNC NCBI

Linked Data

gnomAD v4: 18-51084038-A-ACC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51084039_51084040insCC , CM000680.2:g.51084039_51084040insCC GRCh38
NC_000018.9:g.48610409_48610410insCC , CM000680.1:g.48610409_48610410insCC GRCh37
NC_000018.8:g.46864407_46864408insCC NCBI36
NG_013013.2:g.121000_121001insCC , LRG_318:g.121000_121001insCC

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.*5572_*5573insCC ENSP00000465878.2:n.*5572_*5573insCC
ENST00000589076.6:c.*5572_*5573insCC ENSP00000466934.2:n.*5572_*5573insCC
ENST00000589941.2:c.*5572_*5573insCC ENSP00000465874.2:n.*5572_*5573insCC
ENST00000590061.2:c.*5572_*5573insCC ENSP00000464772.2:n.*5572_*5573insCC
ENST00000688574.1:n.7339_7340insCC
ENST00000342988.8:c.*5572_*5573insCC MANE Select ENSP00000341551.3:n.*5572_*5573insCC
ENST00000342988.7:c.*5572_*5573insCC ENSP00000341551.3:n.*5572_*5573insCC
ENST00000398417.6:c.*5572_*5573insCC ENSP00000381452.1:n.*5572_*5573insCC
NM_005359.5:c.*5572_*5573insCC , LRG_318t1:c.*5572_*5573insCC NP_005350.1:n.*5572_*5573insCC
NM_005359.6:c.*5572_*5573insCC MANE Select NP_005350.1:n.*5572_*5573insCC
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