Canonical Allele Identifier: CA617232644

Gene: IVD

Linked Data

• dbSNP Id: rs1459319268
• gnomAD v2: 15-40703852-CCAGCTTCTCGGGGCATCA-C
• gnomAD v4: 15-40411653-CCAGCTTCTCGGGGCATCA-C
• MyVariant Identifiers: chr15:g.40703853_40703870del (hg19) ; chr15:g.40411654_40411671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411658_40411675del , CM000677.2:g.40411658_40411675del	GRCh38
NC_000015.9:g.40703857_40703874del , CM000677.1:g.40703857_40703874del	GRCh37
NC_000015.8:g.38491149_38491166del	NCBI36
NG_011986.1:g.11172_11189del
NG_011986.2:g.11174_11191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.564_581del	ENSP00000417990.3:p.Ser189_Ala194del
ENST00000487418.8:c.654_671del MANE Select	ENSP00000418397.3:p.Ser219_Ala224del
ENST00000650656.1:c.573_590del	ENSP00000498731.1:p.Ser192_Ala197del
ENST00000651168.1:c.663_680del	ENSP00000499074.1:p.Ser222_Ala227del
ENST00000473112.6:c.413_430del
ENST00000479013.6:c.573_590del	ENSP00000417990.2:p.Ser192_Ala197del
ENST00000481262.6:c.260_277del
ENST00000484250.1:n.277_294del
ENST00000487418.6:c.663_680del	ENSP00000418397.2:p.Ser222_Ala227del
ENST00000491554.6:c.51_68del	ENSP00000453146.1:p.Ser18_Ala23del
ENST00000558610.5:c.606_623del	ENSP00000453821.1:p.Ser203_Ala208del
NM_001159508.1:c.573_590del	NP_001152980.1:p.Ser192_Ala197del
NM_002225.3:c.663_680del	NP_002216.2:p.Ser222_Ala227del
XM_005254350.2:c.663_680del	XP_005254407.1:p.Ser222_Ala227del
XM_005254356.2:c.663_680del	XP_005254413.1:p.Ser222_Ala227del
XM_006720491.2:c.606_623del	XP_006720554.1:p.Ser203_Ala208del
XM_006720492.2:c.663_680del	XP_006720555.1:p.Ser222_Ala227del
XM_006720493.2:c.663_680del	XP_006720556.1:p.Ser222_Ala227del
XM_006720494.2:c.663_680del	XP_006720557.1:p.Ser222_Ala227del
XM_006720495.2:c.663_680del	XP_006720558.1:p.Ser222_Ala227del
XM_011521523.1:c.663_680del	XP_011519825.1:p.Ser222_Ala227del
XM_011521524.1:c.663_680del	XP_011519826.1:p.Ser222_Ala227del
XR_243097.3:n.663_680del
XR_243098.2:n.663_680del
XR_429453.2:n.764_781del
NM_001159508.2:c.564_581del	NP_001152980.2:p.Ser189_Ala194del
NM_001354597.2:c.606_623del	NP_001341526.1:p.Ser203_Ala208del
NM_001354598.2:c.654_671del	NP_001341527.2:p.Ser219_Ala224del
NM_001354599.2:c.741_758del	NP_001341528.2:p.Ser248_Ala253del
NM_001354600.2:c.741_758del	NP_001341529.2:p.Ser248_Ala253del
NM_001354601.2:c.654_671del	NP_001341530.2:p.Ser219_Ala224del
NM_002225.4:c.654_671del	NP_002216.3:p.Ser219_Ala224del
NR_148925.1:n.1064_1081del
XM_006720495.3:c.663_680del	XP_006720558.1:p.Ser222_Ala227del
XM_017022149.1:c.750_767del	XP_016877638.1:p.Ser251_Ala256del
XM_017022150.1:c.750_767del	XP_016877639.1:p.Ser251_Ala256del
XM_017022153.1:c.750_767del	XP_016877642.1:p.Ser251_Ala256del
XM_017022154.2:c.693_710del	XP_016877643.1:p.Ser232_Ala237del
XM_017022155.2:c.750_767del	XP_016877644.1:p.Ser251_Ala256del
XM_017022157.1:c.750_767del	XP_016877646.1:p.Ser251_Ala256del
XM_017022158.2:c.750_767del	XP_016877647.1:p.Ser251_Ala256del
XR_001751263.1:n.1013_1030del
XR_001751264.1:n.1054_1071del
NM_001159508.3:c.564_581del	NP_001152980.2:p.Ser189_Ala194del
NM_001354597.3:c.606_623del	NP_001341526.1:p.Ser203_Ala208del
NM_001354598.3:c.654_671del	NP_001341527.2:p.Ser219_Ala224del
NM_001354599.3:c.741_758del	NP_001341528.2:p.Ser248_Ala253del
NM_001354600.3:c.741_758del	NP_001341529.2:p.Ser248_Ala253del
NM_001354601.3:c.654_671del	NP_001341530.2:p.Ser219_Ala224del
NM_002225.5:c.654_671del MANE Select	NP_002216.3:p.Ser219_Ala224del
NR_148925.2:n.1066_1083del