Canonical Allele Identifier: CA312667

Gene: IVD

Linked Data

• ClinVar Variation Id: 203791
• ClinVar RCV Id: RCV000185985 ; RCV001040480
• dbSNP Id: rs796051982
• gnomAD v2: 15-40703465-A-AGTG
• gnomAD v3: 15-40411266-A-AGTG
• gnomAD v4: 15-40411266-A-AGTG
• MyVariant Identifiers: chr15:g.40703469_40703471dupGTG (hg19) ; chr15:g.40703465_40703466insGTG (hg19) ; chr15:g.40411270_40411272dupGTG (hg38) ; chr15:g.40411266_40411267insGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411270_40411272dup , CM000677.2:g.40411270_40411272dup	GRCh38
NC_000015.9:g.40703469_40703471dup , CM000677.1:g.40703469_40703471dup	GRCh37
NC_000015.8:g.38490761_38490763dup	NCBI36
NG_011986.1:g.10784_10786dup
NG_011986.2:g.10786_10788dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.377_379dup	ENSP00000417990.3:p.Gly126_Glu127insGly
ENST00000487418.8:c.467_469dup MANE Select	ENSP00000418397.3:p.Gly156_Glu157insGly
ENST00000610693.5:c.554_556dup	ENSP00000479359.2:p.Gly185_Glu186insGly
ENST00000650656.1:c.386_388dup	ENSP00000498731.1:p.Gly129_Glu130insGly
ENST00000651168.1:c.476_478dup	ENSP00000499074.1:p.Gly159_Glu160insGly
ENST00000473112.6:c.226_228dup
ENST00000479013.6:c.386_388dup	ENSP00000417990.2:p.Gly129_Glu130insGly
ENST00000481262.6:c.73_75dup
ENST00000484250.1:n.90_92dup
ENST00000487418.6:c.476_478dup	ENSP00000418397.2:p.Gly159_Glu160insGly
ENST00000558610.5:c.419_421dup	ENSP00000453821.1:p.Gly140_Glu141insGly
ENST00000610693.4:c.563_565dup	ENSP00000479359.1:p.Gly188_Glu189insGly
NM_001159508.1:c.386_388dup	NP_001152980.1:p.Gly129_Glu130insGly
NM_002225.3:c.476_478dup	NP_002216.2:p.Gly159_Glu160insGly
XM_005254350.2:c.476_478dup	XP_005254407.1:p.Gly159_Glu160insGly
XM_005254356.2:c.476_478dup	XP_005254413.1:p.Gly159_Glu160insGly
XM_006720491.2:c.419_421dup	XP_006720554.1:p.Gly140_Glu141insGly
XM_006720492.2:c.476_478dup	XP_006720555.1:p.Gly159_Glu160insGly
XM_006720493.2:c.476_478dup	XP_006720556.1:p.Gly159_Glu160insGly
XM_006720494.2:c.476_478dup	XP_006720557.1:p.Gly159_Glu160insGly
XM_006720495.2:c.476_478dup	XP_006720558.1:p.Gly159_Glu160insGly
XM_011521523.1:c.476_478dup	XP_011519825.1:p.Gly159_Glu160insGly
XM_011521524.1:c.476_478dup	XP_011519826.1:p.Gly159_Glu160insGly
XR_243097.3:n.476_478dup
XR_243098.2:n.476_478dup
XR_429453.2:n.577_579dup
NM_001159508.2:c.377_379dup	NP_001152980.2:p.Gly126_Glu127insGly
NM_001354597.2:c.419_421dup	NP_001341526.1:p.Gly140_Glu141insGly
NM_001354598.2:c.467_469dup	NP_001341527.2:p.Gly156_Glu157insGly
NM_001354599.2:c.554_556dup	NP_001341528.2:p.Gly185_Glu186insGly
NM_001354600.2:c.554_556dup	NP_001341529.2:p.Gly185_Glu186insGly
NM_001354601.2:c.467_469dup	NP_001341530.2:p.Gly156_Glu157insGly
NM_002225.4:c.467_469dup	NP_002216.3:p.Gly156_Glu157insGly
NR_148925.1:n.877_879dup
XM_006720495.3:c.476_478dup	XP_006720558.1:p.Gly159_Glu160insGly
XM_017022149.1:c.563_565dup	XP_016877638.1:p.Gly188_Glu189insGly
XM_017022150.1:c.563_565dup	XP_016877639.1:p.Gly188_Glu189insGly
XM_017022153.1:c.563_565dup	XP_016877642.1:p.Gly188_Glu189insGly
XM_017022154.2:c.506_508dup	XP_016877643.1:p.Gly169_Glu170insGly
XM_017022155.2:c.563_565dup	XP_016877644.1:p.Gly188_Glu189insGly
XM_017022157.1:c.563_565dup	XP_016877646.1:p.Gly188_Glu189insGly
XM_017022158.2:c.563_565dup	XP_016877647.1:p.Gly188_Glu189insGly
XR_001751263.1:n.826_828dup
XR_001751264.1:n.867_869dup
NM_001159508.3:c.377_379dup	NP_001152980.2:p.Gly126_Glu127insGly
NM_001354597.3:c.419_421dup	NP_001341526.1:p.Gly140_Glu141insGly
NM_001354598.3:c.467_469dup	NP_001341527.2:p.Gly156_Glu157insGly
NM_001354599.3:c.554_556dup	NP_001341528.2:p.Gly185_Glu186insGly
NM_001354600.3:c.554_556dup	NP_001341529.2:p.Gly185_Glu186insGly
NM_001354601.3:c.467_469dup	NP_001341530.2:p.Gly156_Glu157insGly
NM_002225.5:c.467_469dup MANE Select	NP_002216.3:p.Gly156_Glu157insGly
NR_148925.2:n.879_881dup