Canonical Allele Identifier: CA2301971444

Gene: SMAD7

Linked Data

• dbSNP Id: rs2069902088

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.48924507_48924508del , CM000680.2:g.48924507_48924508del	GRCh38
NC_000018.9:g.46450877_46450878del , CM000680.1:g.46450877_46450878del	GRCh37
NC_000018.8:g.44704875_44704876del	NCBI36
NG_023330.1:g.31205_31206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262158.8:c.743-2597_743-2596del MANE Select	ENSP00000262158.2:n.743-2597_743-2596del
ENST00000262158.7:c.743-2597_743-2596del	ENSP00000262158.2:n.743-2597_743-2596del
ENST00000262158.6:c.743-2597_743-2596del	ENSP00000262158.2:n.743-2597_743-2596del
ENST00000545051.2:n.328-2597_328-2596del
ENST00000585986.1:n.154-2597_154-2596del
ENST00000586093.1:c.98-2597_98-2596del	ENSP00000465590.1:n.98-2597_98-2596del
ENST00000587336.1:n.50-2597_50-2596del
ENST00000588190.1:n.132-2597_132-2596del
ENST00000589634.1:c.740-2597_740-2596del	ENSP00000467621.1:n.740-2597_740-2596del
ENST00000591805.5:c.98-2597_98-2596del	ENSP00000466902.1:n.98-2597_98-2596del
NM_001190821.1:c.740-2597_740-2596del	NP_001177750.1:n.740-2597_740-2596del
NM_001190822.1:c.98-2597_98-2596del	NP_001177751.1:n.98-2597_98-2596del
NM_001190823.1:c.179-2597_179-2596del	NP_001177752.1:n.179-2597_179-2596del
NM_005904.3:c.743-2597_743-2596del	NP_005895.1:n.743-2597_743-2596del
NM_001190822.2:c.98-2597_98-2596del	NP_001177751.1:n.98-2597_98-2596del
NM_001190821.2:c.740-2597_740-2596del	NP_001177750.1:n.740-2597_740-2596del
NM_001190823.2:c.179-2597_179-2596del	NP_001177752.1:n.179-2597_179-2596del
NM_005904.4:c.743-2597_743-2596del MANE Select	NP_005895.1:n.743-2597_743-2596del