Canonical Allele Identifier: CA7480578

Gene: IVD

Linked Data

• ClinVar Variation Id: 508417
• ClinVar RCV Id: RCV000615084 ; RCV002531193
• dbSNP Id: rs775497134
• ExAC: 15:40700203 CTT / C
• gnomAD v2: 15-40700203-CTT-C
• gnomAD v3: 15-40408004-CTT-C
• gnomAD v4: 15-40408004-CTT-C
• MyVariant Identifiers: chr15:g.40700205_40700206del (hg19) ; chr15:g.40700204_40700205del (hg19) ; chr15:g.40408006_40408007del (hg38) ; chr15:g.40408005_40408006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40408006_40408007del , CM000677.2:g.40408006_40408007del	GRCh38
NC_000015.9:g.40700205_40700206del , CM000677.1:g.40700205_40700206del	GRCh37
NC_000015.8:g.38487497_38487498del	NCBI36
NG_011986.1:g.7520_7521del
NG_011986.2:g.7522_7523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.196+16_196+17del	ENSP00000417990.3:n.196+16_196+17del
ENST00000487418.8:c.286+16_286+17del MANE Select	ENSP00000418397.3:n.286+16_286+17del
ENST00000610693.5:c.373+16_373+17del	ENSP00000479359.2:n.373+16_373+17del
ENST00000650656.1:c.205+16_205+17del	ENSP00000498731.1:n.205+16_205+17del
ENST00000651168.1:c.295+16_295+17del	ENSP00000499074.1:n.295+16_295+17del
ENST00000473112.6:c.45+16_45+17del
ENST00000479013.6:c.205+16_205+17del	ENSP00000417990.2:n.205+16_205+17del
ENST00000487418.6:c.295+16_295+17del	ENSP00000418397.2:n.295+16_295+17del
ENST00000558610.5:c.238+16_238+17del	ENSP00000453821.1:n.238+16_238+17del
ENST00000610693.4:c.382+16_382+17del	ENSP00000479359.1:n.382+16_382+17del
NM_001159508.1:c.205+16_205+17del	NP_001152980.1:n.205+16_205+17del
NM_002225.3:c.295+16_295+17del	NP_002216.2:n.295+16_295+17del
XM_005254350.2:c.295+16_295+17del	XP_005254407.1:n.295+16_295+17del
XM_005254356.2:c.295+16_295+17del	XP_005254413.1:n.295+16_295+17del
XM_006720491.2:c.238+16_238+17del	XP_006720554.1:n.238+16_238+17del
XM_006720492.2:c.295+16_295+17del	XP_006720555.1:n.295+16_295+17del
XM_006720493.2:c.295+16_295+17del	XP_006720556.1:n.295+16_295+17del
XM_006720494.2:c.295+16_295+17del	XP_006720557.1:n.295+16_295+17del
XM_006720495.2:c.295+16_295+17del	XP_006720558.1:n.295+16_295+17del
XM_011521523.1:c.295+16_295+17del	XP_011519825.1:n.295+16_295+17del
XM_011521524.1:c.295+16_295+17del	XP_011519826.1:n.295+16_295+17del
XR_243097.3:n.295+16_295+17del
XR_243098.2:n.295+16_295+17del
XR_429453.2:n.396+16_396+17del
NM_001159508.2:c.196+16_196+17del	NP_001152980.2:n.196+16_196+17del
NM_001354597.2:c.238+16_238+17del	NP_001341526.1:n.238+16_238+17del
NM_001354598.2:c.286+16_286+17del	NP_001341527.2:n.286+16_286+17del
NM_001354599.2:c.373+16_373+17del	NP_001341528.2:n.373+16_373+17del
NM_001354600.2:c.373+16_373+17del	NP_001341529.2:n.373+16_373+17del
NM_001354601.2:c.286+16_286+17del	NP_001341530.2:n.286+16_286+17del
NM_002225.4:c.286+16_286+17del	NP_002216.3:n.286+16_286+17del
NR_148925.1:n.696+16_696+17del
XM_006720495.3:c.295+16_295+17del	XP_006720558.1:n.295+16_295+17del
XM_017022149.1:c.382+16_382+17del	XP_016877638.1:n.382+16_382+17del
XM_017022150.1:c.382+16_382+17del	XP_016877639.1:n.382+16_382+17del
XM_017022153.1:c.382+16_382+17del	XP_016877642.1:n.382+16_382+17del
XM_017022154.2:c.325+16_325+17del	XP_016877643.1:n.325+16_325+17del
XM_017022155.2:c.382+16_382+17del	XP_016877644.1:n.382+16_382+17del
XM_017022157.1:c.382+16_382+17del	XP_016877646.1:n.382+16_382+17del
XM_017022158.2:c.382+16_382+17del	XP_016877647.1:n.382+16_382+17del
XR_001751263.1:n.645+16_645+17del
XR_001751264.1:n.686+16_686+17del
NM_001159508.3:c.196+16_196+17del	NP_001152980.2:n.196+16_196+17del
NM_001354597.3:c.238+16_238+17del	NP_001341526.1:n.238+16_238+17del
NM_001354598.3:c.286+16_286+17del	NP_001341527.2:n.286+16_286+17del
NM_001354599.3:c.373+16_373+17del	NP_001341528.2:n.373+16_373+17del
NM_001354600.3:c.373+16_373+17del	NP_001341529.2:n.373+16_373+17del
NM_001354601.3:c.286+16_286+17del	NP_001341530.2:n.286+16_286+17del
NM_002225.5:c.286+16_286+17del MANE Select	NP_002216.3:n.286+16_286+17del
NR_148925.2:n.698+16_698+17del