Canonical Allele Identifier: CA8996378

Gene: RTTN

Linked Data

• ClinVar Variation Id: 327761
• ClinVar RCV Id: RCV001795946
• dbSNP Id: rs58913700
• ExAC: 18:67863850 T / TCTC
• gnomAD v2: 18-67863850-T-TCTC
• gnomAD v3: 18-70196614-T-TCTC
• gnomAD v4: 18-70196614-T-TCTC
• COSMIC: COSM5713329 ; COSM5713330
• MyVariant Identifiers: chr18:g.67863851_67863853dupCTC (hg19) ; chr18:g.67863854_67863855insTCC (hg19) ; chr18:g.67863850_67863851insCTC (hg19) ; chr18:g.70196615_70196617dupCTC (hg38) ; chr18:g.70196618_70196619insTCC (hg38) ; chr18:g.70196614_70196615insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.70196616_70196618dup , CM000680.2:g.70196616_70196618dup	GRCh38
NC_000018.9:g.67863852_67863854dup , CM000680.1:g.67863852_67863854dup	GRCh37
NC_000018.8:g.66014832_66014834dup	NCBI36
NG_033104.1:g.14110_14112dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000255674.11:c.725_727dup	ENSP00000255674.7:p.Gly242_Asp243insGly
ENST00000638251.1:c.725_727dup	ENSP00000491968.1:p.Gly242_Asp243insGly
ENST00000640376.1:c.206_208dup	ENSP00000491654.1:p.Gly69_Asp70insGly
ENST00000640654.1:n.275_277dup
ENST00000640736.1:n.573_575dup
ENST00000640769.2:c.725_727dup MANE Select	ENSP00000491507.1:p.Gly242_Asp243insGly
ENST00000255674.10:c.725_727dup	ENSP00000255674.6:p.Gly242_Asp243insGly
ENST00000581161.5:c.725_727dup	ENSP00000462926.1:p.Gly242_Asp243insGly
ENST00000581583.1:n.793_795dup
ENST00000583043.5:c.95_97dup	ENSP00000462733.1:p.Gly32_Asp33insGly
NM_173630.3:c.725_727dup	NP_775901.3:p.Gly242_Asp243insGly
XM_005266679.1:c.-1829_-1827dup	XP_005266736.1:n.-1829_-1827dup
XM_006722434.2:c.725_727dup	XP_006722497.1:p.Gly242_Asp243insGly
XM_006722435.2:c.725_727dup	XP_006722498.1:p.Gly242_Asp243insGly
XM_011525902.1:c.725_727dup	XP_011524204.1:p.Gly242_Asp243insGly
XM_011525903.1:c.725_727dup	XP_011524205.1:p.Gly242_Asp243insGly
XM_011525904.1:c.725_727dup	XP_011524206.1:p.Gly242_Asp243insGly
XM_011525905.1:c.725_727dup	XP_011524207.1:p.Gly242_Asp243insGly
XM_011525907.1:c.725_727dup	XP_011524209.1:p.Gly242_Asp243insGly
XM_011525908.1:c.725_727dup	XP_011524210.1:p.Gly242_Asp243insGly
XR_430072.2:n.763_765dup
XR_935213.1:n.763_765dup
NM_001318520.1:c.-1829_-1827dup	NP_001305449.1:n.-1829_-1827dup
XM_006722434.3:c.725_727dup	XP_006722497.1:p.Gly242_Asp243insGly
XM_006722435.3:c.725_727dup	XP_006722498.1:p.Gly242_Asp243insGly
XM_011525902.2:c.725_727dup	XP_011524204.1:p.Gly242_Asp243insGly
XM_011525903.2:c.725_727dup	XP_011524205.1:p.Gly242_Asp243insGly
XM_011525904.3:c.725_727dup	XP_011524206.1:p.Gly242_Asp243insGly
XM_011525905.2:c.725_727dup	XP_011524207.1:p.Gly242_Asp243insGly
XM_011525907.2:c.725_727dup	XP_011524209.1:p.Gly242_Asp243insGly
XM_011525908.3:c.725_727dup	XP_011524210.1:p.Gly242_Asp243insGly
XM_017025693.1:c.725_727dup	XP_016881182.1:p.Gly242_Asp243insGly
XM_017025694.1:c.83_85dup	XP_016881183.1:p.Gly28_Asp29insGly
XM_017025696.1:c.-1447_-1445dup	XP_016881185.1:n.-1447_-1445dup
XM_024451139.1:c.-56_-54dup	XP_024306907.1:n.-56_-54dup
XM_024451140.1:c.-56_-54dup	XP_024306908.1:n.-56_-54dup
XR_430072.3:n.793_795dup
XR_935213.2:n.793_795dup
NM_001318520.2:c.-1829_-1827dup	NP_001305449.1:n.-1829_-1827dup
NM_173630.4:c.725_727dup MANE Select	NP_775901.3:p.Gly242_Asp243insGly