Canonical Allele Identifier: CA629581602

Gene: SMAD4

Linked Data

• dbSNP Id: rs1568211705
• gnomAD v2: 18-48605062-G-GAGAAACACATTCTTATTAATTCTTCACCTGTTATGTATGAAGGAATCATTCCAGTGCT
• gnomAD v3: 18-51078692-G-GAGAAACACATTCTTATTAATTCTTCACCTGTTATGTATGAAGGAATCATTCCAGTGCT
• gnomAD v4: 18-51078692-G-GAGAAACACATTCTTATTAATTCTTCACCTGTTATGTATGAAGGAATCATTCCAGTGCT
• MyVariant Identifiers: chr18:g.48605062_48605063insAGAAACACATTCTTATTAATTCTTCACCTGTTATGTATGAAGGAATCATTCCAGTGCT (hg19) ; chr18:g.51078692_51078693insAGAAACACATTCTTATTAATTCTTCACCTGTTATGTATGAAGGAATCATTCCAGTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078698_51078755dup , CM000680.2:g.51078698_51078755dup	GRCh38
NC_000018.9:g.48605068_48605125dup , CM000680.1:g.48605068_48605125dup	GRCh37
NC_000018.8:g.46859066_46859123dup	NCBI36
NG_013013.2:g.115659_115716dup , LRG_318:g.115659_115716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*231_*288dup	ENSP00000465878.2:n.*231_*288dup
ENST00000589076.6:c.*231_*288dup	ENSP00000466934.2:n.*231_*288dup
ENST00000589941.2:c.*231_*288dup	ENSP00000465874.2:n.*231_*288dup
ENST00000590061.2:c.*231_*288dup	ENSP00000464772.2:n.*231_*288dup
ENST00000593223.2:c.*1887_*1944dup	ENSP00000466118.2:n.*1887_*1944dup
ENST00000611848.2:c.*542_*599dup	ENSP00000478613.2:n.*542_*599dup
ENST00000684953.1:n.3905_3962dup
ENST00000685090.1:n.3820_3877dup
ENST00000685232.1:n.2111_2168dup
ENST00000688574.1:n.1998_2055dup
ENST00000691124.1:n.4851_4908dup
ENST00000342988.8:c.*231_*288dup MANE Select	ENSP00000341551.3:n.*231_*288dup
ENST00000342988.7:c.*231_*288dup	ENSP00000341551.3:n.*231_*288dup
ENST00000398417.6:c.*231_*288dup	ENSP00000381452.1:n.*231_*288dup
ENST00000586253.1:n.612_669dup
ENST00000591126.5:n.3891_3948dup
ENST00000611848.1:c.1203_1260dup
NM_005359.5:c.*231_*288dup , LRG_318t1:c.*231_*288dup	NP_005350.1:n.*231_*288dup
NM_005359.6:c.*231_*288dup MANE Select	NP_005350.1:n.*231_*288dup