Canonical Allele Identifier: CA2301975439

Gene: SMAD7

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48932671_48932672delinsGA , CM000680.2:g.48932671_48932672delinsGA	GRCh38
NC_000018.9:g.46459041_46459042delinsGA , CM000680.1:g.46459041_46459042delinsGA	GRCh37
NC_000018.8:g.44713039_44713040delinsGA	NCBI36
NG_023330.1:g.23040_23041delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262158.8:c.742+9809_742+9810delinsTC MANE Select	ENSP00000262158.2:n.742+9809_742+9810delinsTC
ENST00000262158.7:c.742+9809_742+9810delinsTC	ENSP00000262158.2:n.742+9809_742+9810delinsTC
ENST00000262158.6:c.742+9809_742+9810delinsTC	ENSP00000262158.2:n.742+9809_742+9810delinsTC
ENST00000545051.2:n.327+9809_327+9810delinsTC
ENST00000585986.1:n.153+9809_153+9810delinsTC
ENST00000586093.1:c.97+9809_97+9810delinsTC	ENSP00000465590.1:n.97+9809_97+9810delinsTC
ENST00000588190.1:n.131+920_131+921delinsTC
ENST00000589634.1:c.739+9809_739+9810delinsTC	ENSP00000467621.1:n.739+9809_739+9810delinsTC
ENST00000591805.5:c.97+9809_97+9810delinsTC	ENSP00000466902.1:n.97+9809_97+9810delinsTC
NM_001190821.1:c.739+9809_739+9810delinsTC	NP_001177750.1:n.739+9809_739+9810delinsTC
NM_001190822.1:c.97+9809_97+9810delinsTC	NP_001177751.1:n.97+9809_97+9810delinsTC
NM_001190823.1:c.178+9809_178+9810delinsTC	NP_001177752.1:n.178+9809_178+9810delinsTC
NM_005904.3:c.742+9809_742+9810delinsTC	NP_005895.1:n.742+9809_742+9810delinsTC
NM_001190822.2:c.97+9809_97+9810delinsTC	NP_001177751.1:n.97+9809_97+9810delinsTC
NM_001190821.2:c.739+9809_739+9810delinsTC	NP_001177750.1:n.739+9809_739+9810delinsTC
NM_001190823.2:c.178+9809_178+9810delinsTC	NP_001177752.1:n.178+9809_178+9810delinsTC
NM_005904.4:c.742+9809_742+9810delinsTC MANE Select	NP_005895.1:n.742+9809_742+9810delinsTC