Canonical Allele Identifier: CA2580610983

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065597_51065616del , CM000680.2:g.51065597_51065616del	GRCh38
NC_000018.9:g.48591967_48591986del , CM000680.1:g.48591967_48591986del	GRCh37
NC_000018.8:g.46845965_46845984del	NCBI36
NG_013013.2:g.102558_102577del , LRG_318:g.102558_102577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1130_1139+10del
ENST00000589076.6:c.1130_1139+10del
ENST00000589941.2:c.1130_1139+10del
ENST00000590061.2:c.1130_1139+10del
ENST00000593223.2:c.1130_1139+10del
ENST00000611848.2:c.1130_1139+10del
ENST00000684953.1:n.2502_2511+10del
ENST00000685090.1:n.1581_1590+10del
ENST00000685232.1:n.1238_1247+10del
ENST00000688307.1:n.381_400del
ENST00000688574.1:n.1238_1247+10del
ENST00000688903.1:n.1344_1363del
ENST00000691124.1:n.2612_2621+10del
ENST00000342988.8:c.1130_1139+10del
ENST00000342988.7:c.1130_1139+10del
ENST00000398417.6:c.1130_1139+10del
ENST00000588745.5:c.842_851+10del
ENST00000591126.5:n.3131_3140+10del
ENST00000592186.5:c.955+5681_955+5700del	ENSP00000468611.1:n.955+5681_955+5700del
ENST00000611848.1:c.330_339+10del
NM_005359.5:c.1130_1139+10del , LRG_318t1:c.1130_1139+10del
NM_005359.6:c.1130_1139+10del