Canonical Allele Identifier: CA658658740

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 486989
• ClinVar RCV Id: RCV002317330 ; RCV003596041
• dbSNP Id: rs1555685156
• MyVariant Identifiers: chr18:g.48575081_48575082del (hg19) ; chr18:g.51048711_51048712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51048711_51048712del , CM000680.2:g.51048711_51048712del	GRCh38
NC_000018.9:g.48575081_48575082del , CM000680.1:g.48575081_48575082del	GRCh37
NC_000018.8:g.46829079_46829080del	NCBI36
NG_013013.2:g.85672_85673del , LRG_318:g.85672_85673del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.275_276del	ENSP00000465878.2:p.His92ArgfsTer11
ENST00000589076.6:c.275_276del	ENSP00000466934.2:p.His92ArgfsTer11
ENST00000589941.2:c.275_276del	ENSP00000465874.2:p.His92ArgfsTer11
ENST00000590061.2:c.275_276del	ENSP00000464772.2:p.His92ArgfsTer11
ENST00000593223.2:c.275_276del	ENSP00000466118.2:p.His92ArgfsTer11
ENST00000611848.2:c.275_276del	ENSP00000478613.2:p.His92ArgfsTer11
ENST00000342988.8:c.275_276del MANE Select	ENSP00000341551.3:p.His92ArgfsTer11
ENST00000342988.7:c.275_276del	ENSP00000341551.3:p.His92ArgfsTer11
ENST00000398417.6:c.275_276del	ENSP00000381452.1:p.His92ArgfsTer11
ENST00000588745.5:c.275_276del	ENSP00000464901.1:p.His92ArgfsTer11
ENST00000588860.5:c.275_276del	ENSP00000465878.1:p.His92ArgfsTer11
ENST00000589706.1:n.143_144del
ENST00000589941.1:c.275_276del	ENSP00000465874.1:p.His92ArgfsTer11
ENST00000590061.1:c.275_276del	ENSP00000464772.1:p.His92ArgfsTer11
ENST00000590722.2:c.*298_*299del	ENSP00000465737.1:n.*298_*299del
ENST00000591914.5:c.275_276del	ENSP00000466941.1:p.His92ArgfsTer11
ENST00000592186.5:c.275_276del	ENSP00000468611.1:p.His92ArgfsTer11
ENST00000592911.5:n.53_54del
NM_005359.5:c.275_276del , LRG_318t1:c.275_276del	NP_005350.1:p.His92ArgfsTer11
NM_005359.6:c.275_276del MANE Select	NP_005350.1:p.His92ArgfsTer11