Canonical Allele Identifier: CA2627815255

Gene: IVD

Linked Data

• gnomAD v4: 15-40411599-G-GCTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411599_40411600insCTGAC , CM000677.2:g.40411599_40411600insCTGAC	GRCh38
NC_000015.9:g.40703798_40703799insCTGAC , CM000677.1:g.40703798_40703799insCTGAC	GRCh37
NC_000015.8:g.38491090_38491091insCTGAC	NCBI36
NG_011986.1:g.11113_11114insCTGAC
NG_011986.2:g.11115_11116insCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.505_506insCTGAC	ENSP00000417990.3:p.Gly169AlafsTer9
ENST00000487418.8:c.595_596insCTGAC MANE Select	ENSP00000418397.3:p.Gly199AlafsTer9
ENST00000650656.1:c.514_515insCTGAC	ENSP00000498731.1:p.Gly172AlafsTer9
ENST00000651168.1:c.604_605insCTGAC	ENSP00000499074.1:p.Gly202AlafsTer9
ENST00000473112.6:c.354_355insCTGAC
ENST00000479013.6:c.514_515insCTGAC	ENSP00000417990.2:p.Gly172AlafsTer9
ENST00000481262.6:c.201_202insCTGAC
ENST00000484250.1:n.218_219insCTGAC
ENST00000487418.6:c.604_605insCTGAC	ENSP00000418397.2:p.Gly202AlafsTer9
ENST00000558610.5:c.547_548insCTGAC	ENSP00000453821.1:p.Gly183AlafsTer9
NM_001159508.1:c.514_515insCTGAC	NP_001152980.1:p.Gly172AlafsTer9
NM_002225.3:c.604_605insCTGAC	NP_002216.2:p.Gly202AlafsTer9
XM_005254350.2:c.604_605insCTGAC	XP_005254407.1:p.Gly202AlafsTer9
XM_005254356.2:c.604_605insCTGAC	XP_005254413.1:p.Gly202AlafsTer9
XM_006720491.2:c.547_548insCTGAC	XP_006720554.1:p.Gly183AlafsTer9
XM_006720492.2:c.604_605insCTGAC	XP_006720555.1:p.Gly202AlafsTer9
XM_006720493.2:c.604_605insCTGAC	XP_006720556.1:p.Gly202AlafsTer9
XM_006720494.2:c.604_605insCTGAC	XP_006720557.1:p.Gly202AlafsTer9
XM_006720495.2:c.604_605insCTGAC	XP_006720558.1:p.Gly202AlafsTer9
XM_011521523.1:c.604_605insCTGAC	XP_011519825.1:p.Gly202AlafsTer9
XM_011521524.1:c.604_605insCTGAC	XP_011519826.1:p.Gly202AlafsTer9
XR_243097.3:n.604_605insCTGAC
XR_243098.2:n.604_605insCTGAC
XR_429453.2:n.705_706insCTGAC
NM_001159508.2:c.505_506insCTGAC	NP_001152980.2:p.Gly169AlafsTer9
NM_001354597.2:c.547_548insCTGAC	NP_001341526.1:p.Gly183AlafsTer9
NM_001354598.2:c.595_596insCTGAC	NP_001341527.2:p.Gly199AlafsTer9
NM_001354599.2:c.682_683insCTGAC	NP_001341528.2:p.Gly228AlafsTer9
NM_001354600.2:c.682_683insCTGAC	NP_001341529.2:p.Gly228AlafsTer9
NM_001354601.2:c.595_596insCTGAC	NP_001341530.2:p.Gly199AlafsTer9
NM_002225.4:c.595_596insCTGAC	NP_002216.3:p.Gly199AlafsTer9
NR_148925.1:n.1005_1006insCTGAC
XM_006720495.3:c.604_605insCTGAC	XP_006720558.1:p.Gly202AlafsTer9
XM_017022149.1:c.691_692insCTGAC	XP_016877638.1:p.Gly231AlafsTer9
XM_017022150.1:c.691_692insCTGAC	XP_016877639.1:p.Gly231AlafsTer9
XM_017022153.1:c.691_692insCTGAC	XP_016877642.1:p.Gly231AlafsTer9
XM_017022154.2:c.634_635insCTGAC	XP_016877643.1:p.Gly212AlafsTer9
XM_017022155.2:c.691_692insCTGAC	XP_016877644.1:p.Gly231AlafsTer9
XM_017022157.1:c.691_692insCTGAC	XP_016877646.1:p.Gly231AlafsTer9
XM_017022158.2:c.691_692insCTGAC	XP_016877647.1:p.Gly231AlafsTer9
XR_001751263.1:n.954_955insCTGAC
XR_001751264.1:n.995_996insCTGAC
NM_001159508.3:c.505_506insCTGAC	NP_001152980.2:p.Gly169AlafsTer9
NM_001354597.3:c.547_548insCTGAC	NP_001341526.1:p.Gly183AlafsTer9
NM_001354598.3:c.595_596insCTGAC	NP_001341527.2:p.Gly199AlafsTer9
NM_001354599.3:c.682_683insCTGAC	NP_001341528.2:p.Gly228AlafsTer9
NM_001354600.3:c.682_683insCTGAC	NP_001341529.2:p.Gly228AlafsTer9
NM_001354601.3:c.595_596insCTGAC	NP_001341530.2:p.Gly199AlafsTer9
NM_002225.5:c.595_596insCTGAC MANE Select	NP_002216.3:p.Gly199AlafsTer9
NR_148925.2:n.1007_1008insCTGAC