Canonical Allele Identifier: CA2627812585

Gene: IVD

Linked Data

• ClinVar Variation Id: 2752664
• ClinVar RCV Id: RCV003500048
• gnomAD v4: 15-40407741-C-CGGGCAGTCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407750_40407759dup , CM000677.2:g.40407750_40407759dup	GRCh38
NC_000015.9:g.40699951_40699960dup , CM000677.1:g.40699951_40699960dup	GRCh37
NC_000015.8:g.38487243_38487252dup	NCBI36
NG_011986.1:g.7266_7275dup
NG_011986.2:g.7266_7275dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000479013.7:c.145-189_145-180dup	ENSP00000417990.3:n.145-189_145-180dup
ENST00000487418.8:c.234+25_234+34dup MANE Select	ENSP00000418397.3:n.234+25_234+34dup
ENST00000610693.5:c.259_268dup	ENSP00000479359.2:p.Gln90ArgfsTer?
ENST00000650656.1:c.154-189_154-180dup	ENSP00000498731.1:n.154-189_154-180dup
ENST00000651168.1:c.243+25_243+34dup	ENSP00000499074.1:n.243+25_243+34dup
ENST00000479013.6:c.154-189_154-180dup	ENSP00000417990.2:n.154-189_154-180dup
ENST00000487418.6:c.243+25_243+34dup	ENSP00000418397.2:n.243+25_243+34dup
ENST00000558610.5:c.186+25_186+34dup	ENSP00000453821.1:n.186+25_186+34dup
ENST00000610693.4:c.268_277dup	ENSP00000479359.1:p.Gln93ArgfsTer?
NM_001159508.1:c.154-189_154-180dup	NP_001152980.1:n.154-189_154-180dup
NM_002225.3:c.243+25_243+34dup	NP_002216.2:n.243+25_243+34dup
XM_005254350.2:c.243+25_243+34dup	XP_005254407.1:n.243+25_243+34dup
XM_005254356.2:c.243+25_243+34dup	XP_005254413.1:n.243+25_243+34dup
XM_006720491.2:c.186+25_186+34dup	XP_006720554.1:n.186+25_186+34dup
XM_006720492.2:c.243+25_243+34dup	XP_006720555.1:n.243+25_243+34dup
XM_006720493.2:c.243+25_243+34dup	XP_006720556.1:n.243+25_243+34dup
XM_006720494.2:c.243+25_243+34dup	XP_006720557.1:n.243+25_243+34dup
XM_006720495.2:c.243+25_243+34dup	XP_006720558.1:n.243+25_243+34dup
XM_011521523.1:c.243+25_243+34dup	XP_011519825.1:n.243+25_243+34dup
XM_011521524.1:c.243+25_243+34dup	XP_011519826.1:n.243+25_243+34dup
XR_243097.3:n.243+25_243+34dup
XR_243098.2:n.243+25_243+34dup
XR_429453.2:n.344+25_344+34dup
NM_001159508.2:c.145-189_145-180dup	NP_001152980.2:n.145-189_145-180dup
NM_001354597.2:c.186+25_186+34dup	NP_001341526.1:n.186+25_186+34dup
NM_001354598.2:c.234+25_234+34dup	NP_001341527.2:n.234+25_234+34dup
NM_001354599.2:c.259_268dup	NP_001341528.2:p.Gln90ArgfsTer?
NM_001354600.2:c.259_268dup	NP_001341529.2:p.Gln90ArgfsTer?
NM_001354601.2:c.234+25_234+34dup	NP_001341530.2:n.234+25_234+34dup
NM_002225.4:c.234+25_234+34dup	NP_002216.3:n.234+25_234+34dup
NR_148925.1:n.644+25_644+34dup
XM_006720495.3:c.243+25_243+34dup	XP_006720558.1:n.243+25_243+34dup
XM_017022149.1:c.268_277dup	XP_016877638.1:p.Gln93ArgfsTer?
XM_017022150.1:c.268_277dup	XP_016877639.1:p.Gln93ArgfsTer?
XM_017022153.1:c.268_277dup	XP_016877642.1:p.Gln93ArgfsTer?
XM_017022154.2:c.211_220dup	XP_016877643.1:p.Gln74ArgfsTer?
XM_017022155.2:c.268_277dup	XP_016877644.1:p.Gln93ArgfsTer?
XM_017022157.1:c.268_277dup	XP_016877646.1:p.Gln93ArgfsTer?
XM_017022158.2:c.268_277dup	XP_016877647.1:p.Gln93ArgfsTer?
XR_001751263.1:n.593+25_593+34dup
XR_001751264.1:n.634+25_634+34dup
NM_001159508.3:c.145-189_145-180dup	NP_001152980.2:n.145-189_145-180dup
NM_001354597.3:c.186+25_186+34dup	NP_001341526.1:n.186+25_186+34dup
NM_001354598.3:c.234+25_234+34dup	NP_001341527.2:n.234+25_234+34dup
NM_001354599.3:c.259_268dup	NP_001341528.2:p.Gln90ArgfsTer?
NM_001354600.3:c.259_268dup	NP_001341529.2:p.Gln90ArgfsTer?
NM_001354601.3:c.234+25_234+34dup	NP_001341530.2:n.234+25_234+34dup
NM_002225.5:c.234+25_234+34dup MANE Select	NP_002216.3:n.234+25_234+34dup
NR_148925.2:n.646+25_646+34dup