Canonical Allele Identifier: CA919984981

Gene: SMAD4

Linked Data

• dbSNP Id: rs1568202841
• gnomAD v4: 18-51046890-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51046896_51046897del , CM000680.2:g.51046896_51046897del	GRCh38
NC_000018.9:g.48573266_48573267del , CM000680.1:g.48573266_48573267del	GRCh37
NC_000018.8:g.46827264_46827265del	NCBI36
NG_013013.2:g.83857_83858del , LRG_318:g.83857_83858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-127-24_-127-23del	ENSP00000465878.2:n.-127-24_-127-23del
ENST00000589076.6:c.-127-24_-127-23del	ENSP00000466934.2:n.-127-24_-127-23del
ENST00000589941.2:c.-127-24_-127-23del	ENSP00000465874.2:n.-127-24_-127-23del
ENST00000590061.2:c.-59-92_-59-91del	ENSP00000464772.2:n.-59-92_-59-91del
ENST00000593223.2:c.-127-24_-127-23del	ENSP00000466118.2:n.-127-24_-127-23del
ENST00000342988.8:c.-127-24_-127-23del MANE Select	ENSP00000341551.3:n.-127-24_-127-23del
ENST00000342988.7:c.-127-24_-127-23del	ENSP00000341551.3:n.-127-24_-127-23del
ENST00000398417.6:c.-127-24_-127-23del	ENSP00000381452.1:n.-127-24_-127-23del
ENST00000588256.1:n.335-24_335-23del
ENST00000588860.5:c.-127-24_-127-23del	ENSP00000465878.1:n.-127-24_-127-23del
ENST00000589076.5:c.-127-24_-127-23del	ENSP00000466934.1:n.-127-24_-127-23del
ENST00000589941.1:c.-127-24_-127-23del	ENSP00000465874.1:n.-127-24_-127-23del
ENST00000590061.1:c.-59-92_-59-91del	ENSP00000464772.1:n.-59-92_-59-91del
ENST00000590722.2:c.158-24_158-23del	ENSP00000465737.1:n.158-24_158-23del
ENST00000591914.5:c.-127-24_-127-23del	ENSP00000466941.1:n.-127-24_-127-23del
ENST00000592911.5:n.28-1790_28-1789del
NM_005359.5:c.-127-24_-127-23del , LRG_318t1:c.-127-24_-127-23del	NP_005350.1:n.-127-24_-127-23del
NM_005359.6:c.-127-24_-127-23del MANE Select	NP_005350.1:n.-127-24_-127-23del