Canonical Allele Identifier: CA2641836331

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51047297-T-TGGCTGGTCGGAAAGGATTTCCTCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047297_51047298insGGCTGGTCGGAAAGGATTTCCTCATG , CM000680.2:g.51047297_51047298insGGCTGGTCGGAAAGGATTTCCTCATG	GRCh38
NC_000018.9:g.48573667_48573668insGGCTGGTCGGAAAGGATTTCCTCATG , CM000680.1:g.48573667_48573668insGGCTGGTCGGAAAGGATTTCCTCATG	GRCh37
NC_000018.8:g.46827665_46827666insGGCTGGTCGGAAAGGATTTCCTCATG	NCBI36
NG_013013.2:g.84258_84259insGGCTGGTCGGAAAGGATTTCCTCATG , LRG_318:g.84258_84259insGGCTGGTCGGAAAGGATTTCCTCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000465878.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000589076.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000466934.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000589941.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000465874.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000590061.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000464772.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000593223.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000466118.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000611848.2:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000478613.2:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000342988.8:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG MANE Select	ENSP00000341551.3:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000342988.7:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000341551.3:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000398417.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000381452.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000588745.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000464901.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000588860.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000465878.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000589076.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000466934.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000589706.1:n.117+2_117+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000589941.1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000465874.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000590061.1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000464772.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000590722.2:c.*272+2_*272+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000465737.1:n.*272+2_*272+3insGGCTGGTCGGAAAGGATTTCCTCAT...
ENST00000591914.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000466941.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000592186.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	ENSP00000468611.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
ENST00000592911.5:n.28-1389_28-1388insGGCTGGTCGGAAAGGATTTCCTCATG
NM_005359.5:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG , LRG_318t1:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG	NP_005350.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG
NM_005359.6:c.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG MANE Select	NP_005350.1:n.249+2_249+3insGGCTGGTCGGAAAGGATTTCCTCATG