Canonical Allele Identifier: CA617232336

Gene: IVD

Linked Data

• ClinVar Variation Id: 2137648
• ClinVar RCV Id: RCV003041220
• dbSNP Id: rs1462096457
• gnomAD v2: 15-40703508-C-CT
• gnomAD v3: 15-40411309-C-CT
• gnomAD v4: 15-40411309-C-CT
• MyVariant Identifiers: chr15:g.40703508_40703509insT (hg19) ; chr15:g.40411309_40411310insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411309_40411310insT , CM000677.2:g.40411309_40411310insT	GRCh38
NC_000015.9:g.40703508_40703509insT , CM000677.1:g.40703508_40703509insT	GRCh37
NC_000015.8:g.38490800_38490801insT	NCBI36
NG_011986.1:g.10823_10824insT
NG_011986.2:g.10825_10826insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.416_417insT	ENSP00000417990.3:p.Gly140ArgfsTer3
ENST00000487418.8:c.506_507insT MANE Select	ENSP00000418397.3:p.Gly170ArgfsTer3
ENST00000610693.5:c.593_594insT	ENSP00000479359.2:p.Gly199ArgfsTer3
ENST00000650656.1:c.425_426insT	ENSP00000498731.1:p.Gly143ArgfsTer3
ENST00000651168.1:c.515_516insT	ENSP00000499074.1:p.Gly173ArgfsTer3
ENST00000473112.6:c.265_266insT
ENST00000479013.6:c.425_426insT	ENSP00000417990.2:p.Gly143ArgfsTer3
ENST00000481262.6:c.112_113insT
ENST00000484250.1:n.129_130insT
ENST00000487418.6:c.515_516insT	ENSP00000418397.2:p.Gly173ArgfsTer3
ENST00000558610.5:c.458_459insT	ENSP00000453821.1:p.Gly154ArgfsTer3
ENST00000610693.4:c.602_603insT	ENSP00000479359.1:p.Gly202ArgfsTer3
NM_001159508.1:c.425_426insT	NP_001152980.1:p.Gly143ArgfsTer3
NM_002225.3:c.515_516insT	NP_002216.2:p.Gly173ArgfsTer3
XM_005254350.2:c.515_516insT	XP_005254407.1:p.Gly173ArgfsTer3
XM_005254356.2:c.515_516insT	XP_005254413.1:p.Gly173ArgfsTer3
XM_006720491.2:c.458_459insT	XP_006720554.1:p.Gly154ArgfsTer3
XM_006720492.2:c.515_516insT	XP_006720555.1:p.Gly173ArgfsTer3
XM_006720493.2:c.515_516insT	XP_006720556.1:p.Gly173ArgfsTer3
XM_006720494.2:c.515_516insT	XP_006720557.1:p.Gly173ArgfsTer3
XM_006720495.2:c.515_516insT	XP_006720558.1:p.Gly173ArgfsTer3
XM_011521523.1:c.515_516insT	XP_011519825.1:p.Gly173ArgfsTer3
XM_011521524.1:c.515_516insT	XP_011519826.1:p.Gly173ArgfsTer3
XR_243097.3:n.515_516insT
XR_243098.2:n.515_516insT
XR_429453.2:n.616_617insT
NM_001159508.2:c.416_417insT	NP_001152980.2:p.Gly140ArgfsTer3
NM_001354597.2:c.458_459insT	NP_001341526.1:p.Gly154ArgfsTer3
NM_001354598.2:c.506_507insT	NP_001341527.2:p.Gly170ArgfsTer3
NM_001354599.2:c.593_594insT	NP_001341528.2:p.Gly199ArgfsTer3
NM_001354600.2:c.593_594insT	NP_001341529.2:p.Gly199ArgfsTer3
NM_001354601.2:c.506_507insT	NP_001341530.2:p.Gly170ArgfsTer3
NM_002225.4:c.506_507insT	NP_002216.3:p.Gly170ArgfsTer3
NR_148925.1:n.916_917insT
XM_006720495.3:c.515_516insT	XP_006720558.1:p.Gly173ArgfsTer3
XM_017022149.1:c.602_603insT	XP_016877638.1:p.Gly202ArgfsTer3
XM_017022150.1:c.602_603insT	XP_016877639.1:p.Gly202ArgfsTer3
XM_017022153.1:c.602_603insT	XP_016877642.1:p.Gly202ArgfsTer3
XM_017022154.2:c.545_546insT	XP_016877643.1:p.Gly183ArgfsTer3
XM_017022155.2:c.602_603insT	XP_016877644.1:p.Gly202ArgfsTer3
XM_017022157.1:c.602_603insT	XP_016877646.1:p.Gly202ArgfsTer3
XM_017022158.2:c.602_603insT	XP_016877647.1:p.Gly202ArgfsTer3
XR_001751263.1:n.865_866insT
XR_001751264.1:n.906_907insT
NM_001159508.3:c.416_417insT	NP_001152980.2:p.Gly140ArgfsTer3
NM_001354597.3:c.458_459insT	NP_001341526.1:p.Gly154ArgfsTer3
NM_001354598.3:c.506_507insT	NP_001341527.2:p.Gly170ArgfsTer3
NM_001354599.3:c.593_594insT	NP_001341528.2:p.Gly199ArgfsTer3
NM_001354600.3:c.593_594insT	NP_001341529.2:p.Gly199ArgfsTer3
NM_001354601.3:c.506_507insT	NP_001341530.2:p.Gly170ArgfsTer3
NM_002225.5:c.506_507insT MANE Select	NP_002216.3:p.Gly170ArgfsTer3
NR_148925.2:n.918_919insT