Canonical Allele Identifier: CA2301975457

Gene: SMAD7

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48932706_48932707delinsTC , CM000680.2:g.48932706_48932707delinsTC	GRCh38
NC_000018.9:g.46459076_46459077delinsTC , CM000680.1:g.46459076_46459077delinsTC	GRCh37
NC_000018.8:g.44713074_44713075delinsTC	NCBI36
NG_023330.1:g.23005_23006delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.742+9774_742+9775delinsGA MANE Select	ENSP00000262158.2:n.742+9774_742+9775delinsGA
ENST00000262158.7:c.742+9774_742+9775delinsGA	ENSP00000262158.2:n.742+9774_742+9775delinsGA
ENST00000262158.6:c.742+9774_742+9775delinsGA	ENSP00000262158.2:n.742+9774_742+9775delinsGA
ENST00000545051.2:n.327+9774_327+9775delinsGA
ENST00000585986.1:n.153+9774_153+9775delinsGA
ENST00000586093.1:c.97+9774_97+9775delinsGA	ENSP00000465590.1:n.97+9774_97+9775delinsGA
ENST00000588190.1:n.131+885_131+886delinsGA
ENST00000589634.1:c.739+9774_739+9775delinsGA	ENSP00000467621.1:n.739+9774_739+9775delinsGA
ENST00000591805.5:c.97+9774_97+9775delinsGA	ENSP00000466902.1:n.97+9774_97+9775delinsGA
NM_001190821.1:c.739+9774_739+9775delinsGA	NP_001177750.1:n.739+9774_739+9775delinsGA
NM_001190822.1:c.97+9774_97+9775delinsGA	NP_001177751.1:n.97+9774_97+9775delinsGA
NM_001190823.1:c.178+9774_178+9775delinsGA	NP_001177752.1:n.178+9774_178+9775delinsGA
NM_005904.3:c.742+9774_742+9775delinsGA	NP_005895.1:n.742+9774_742+9775delinsGA
NM_001190822.2:c.97+9774_97+9775delinsGA	NP_001177751.1:n.97+9774_97+9775delinsGA
NM_001190821.2:c.739+9774_739+9775delinsGA	NP_001177750.1:n.739+9774_739+9775delinsGA
NM_001190823.2:c.178+9774_178+9775delinsGA	NP_001177752.1:n.178+9774_178+9775delinsGA
NM_005904.4:c.742+9774_742+9775delinsGA MANE Select	NP_005895.1:n.742+9774_742+9775delinsGA