Canonical Allele Identifier: CA2573155394

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1478101
• ClinVar RCV Id: RCV001974029 ; RCV002465912
• dbSNP Id: rs2144400060
• gnomAD v4: 18-51047039-TTGAACAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047042_51047049del , CM000680.2:g.51047042_51047049del	GRCh38
NC_000018.9:g.48573412_48573419del , CM000680.1:g.48573412_48573419del	GRCh37
NC_000018.8:g.46827410_46827417del	NCBI36
NG_013013.2:g.84003_84010del , LRG_318:g.84003_84010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-5_3del
ENST00000589076.6:c.-5_3del
ENST00000589941.2:c.-5_3del
ENST00000590061.2:c.-5_3del
ENST00000593223.2:c.-5_3del
ENST00000611848.2:c.-5_3del
ENST00000342988.8:c.-5_3del
ENST00000342988.7:c.-5_3del
ENST00000398417.6:c.-5_3del
ENST00000588256.1:n.457_464del
ENST00000588860.5:c.-5_3del
ENST00000589076.5:c.-5_3del
ENST00000589941.1:c.-5_3del
ENST00000590061.1:c.-5_3del
ENST00000590722.2:c.*19_*26del	ENSP00000465737.1:n.*19_*26del
ENST00000591914.5:c.-5_3del
ENST00000592911.5:n.28-1644_28-1637del
NM_005359.5:c.-5_3del , LRG_318t1:c.-5_3del
NM_005359.6:c.-5_3del