Canonical Allele Identifier: CA990250510

Gene: SMAD4

Linked Data

• gnomAD v3: 18-51066949-T-TTG
• gnomAD v4: 18-51066949-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51066949_51066950insTG , CM000680.2:g.51066949_51066950insTG	GRCh38
NC_000018.9:g.48593319_48593320insTG , CM000680.1:g.48593319_48593320insTG	GRCh37
NC_000018.8:g.46847317_46847318insTG	NCBI36
NG_013013.2:g.103910_103911insTG , LRG_318:g.103910_103911insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-70_1140-69insTG	ENSP00000465878.2:n.1140-70_1140-69insTG
ENST00000589076.6:c.1140-70_1140-69insTG	ENSP00000466934.2:n.1140-70_1140-69insTG
ENST00000589941.2:c.1140-70_1140-69insTG	ENSP00000465874.2:n.1140-70_1140-69insTG
ENST00000590061.2:c.1140-70_1140-69insTG	ENSP00000464772.2:n.1140-70_1140-69insTG
ENST00000593223.2:c.1140-70_1140-69insTG	ENSP00000466118.2:n.1140-70_1140-69insTG
ENST00000611848.2:c.1140-70_1140-69insTG	ENSP00000478613.2:n.1140-70_1140-69insTG
ENST00000684953.1:n.2512-70_2512-69insTG
ENST00000685090.1:n.1591-70_1591-69insTG
ENST00000685232.1:n.1248-70_1248-69insTG
ENST00000688574.1:n.1248-70_1248-69insTG
ENST00000691124.1:n.2622-70_2622-69insTG
ENST00000342988.8:c.1140-70_1140-69insTG MANE Select	ENSP00000341551.3:n.1140-70_1140-69insTG
ENST00000342988.7:c.1140-70_1140-69insTG	ENSP00000341551.3:n.1140-70_1140-69insTG
ENST00000398417.6:c.1140-70_1140-69insTG	ENSP00000381452.1:n.1140-70_1140-69insTG
ENST00000588745.5:c.852-70_852-69insTG	ENSP00000464901.1:n.852-70_852-69insTG
ENST00000590499.1:n.128_129insTG
ENST00000591126.5:n.3141-70_3141-69insTG
ENST00000592186.5:c.955+7033_955+7034insTG	ENSP00000468611.1:n.955+7033_955+7034insTG
ENST00000611848.1:c.340-70_340-69insTG
NM_005359.5:c.1140-70_1140-69insTG , LRG_318t1:c.1140-70_1140-69insTG	NP_005350.1:n.1140-70_1140-69insTG
NM_005359.6:c.1140-70_1140-69insTG MANE Select	NP_005350.1:n.1140-70_1140-69insTG