Canonical Allele Identifier: CA2641839528

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078636-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078636_51078637insG , CM000680.2:g.51078636_51078637insG	GRCh38
NC_000018.9:g.48605006_48605007insG , CM000680.1:g.48605006_48605007insG	GRCh37
NC_000018.8:g.46859004_46859005insG	NCBI36
NG_013013.2:g.115597_115598insG , LRG_318:g.115597_115598insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*169_*170insG	ENSP00000465878.2:n.*169_*170insG
ENST00000589076.6:c.*169_*170insG	ENSP00000466934.2:n.*169_*170insG
ENST00000589941.2:c.*169_*170insG	ENSP00000465874.2:n.*169_*170insG
ENST00000590061.2:c.*169_*170insG	ENSP00000464772.2:n.*169_*170insG
ENST00000593223.2:c.*1825_*1826insG	ENSP00000466118.2:n.*1825_*1826insG
ENST00000611848.2:c.*480_*481insG	ENSP00000478613.2:n.*480_*481insG
ENST00000684953.1:n.3843_3844insG
ENST00000685090.1:n.3758_3759insG
ENST00000685232.1:n.2049_2050insG
ENST00000688574.1:n.1936_1937insG
ENST00000691124.1:n.4789_4790insG
ENST00000342988.8:c.*169_*170insG MANE Select	ENSP00000341551.3:n.*169_*170insG
ENST00000342988.7:c.*169_*170insG	ENSP00000341551.3:n.*169_*170insG
ENST00000398417.6:c.*169_*170insG	ENSP00000381452.1:n.*169_*170insG
ENST00000586253.1:n.550_551insG
ENST00000591126.5:n.3829_3830insG
ENST00000611848.1:c.1141_1142insG
NM_005359.5:c.*169_*170insG , LRG_318t1:c.*169_*170insG	NP_005350.1:n.*169_*170insG
NM_005359.6:c.*169_*170insG MANE Select	NP_005350.1:n.*169_*170insG