Canonical Allele Identifier: CA2171765832

Gene: IVD

Linked Data

• dbSNP Id: rs1891061322

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411350_40411353del , CM000677.2:g.40411350_40411353del	GRCh38
NC_000015.9:g.40703549_40703552del , CM000677.1:g.40703549_40703552del	GRCh37
NC_000015.8:g.38490841_38490844del	NCBI36
NG_011986.1:g.10864_10867del
NG_011986.2:g.10866_10869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.457_460del	ENSP00000417990.3:p.Lys153GlufsTer6
ENST00000487418.8:c.547_550del MANE Select	ENSP00000418397.3:p.Lys183GlufsTer6
ENST00000650656.1:c.466_469del	ENSP00000498731.1:p.Lys156GlufsTer6
ENST00000651168.1:c.556_559del	ENSP00000499074.1:p.Lys186GlufsTer6
ENST00000473112.6:c.306_309del
ENST00000479013.6:c.466_469del	ENSP00000417990.2:p.Lys156GlufsTer6
ENST00000481262.6:c.153_156del
ENST00000484250.1:n.170_173del
ENST00000487418.6:c.556_559del	ENSP00000418397.2:p.Lys186GlufsTer6
ENST00000558610.5:c.499_502del	ENSP00000453821.1:p.Lys167GlufsTer6
NM_001159508.1:c.466_469del	NP_001152980.1:p.Lys156GlufsTer6
NM_002225.3:c.556_559del	NP_002216.2:p.Lys186GlufsTer6
XM_005254350.2:c.556_559del	XP_005254407.1:p.Lys186GlufsTer6
XM_005254356.2:c.556_559del	XP_005254413.1:p.Lys186GlufsTer6
XM_006720491.2:c.499_502del	XP_006720554.1:p.Lys167GlufsTer6
XM_006720492.2:c.556_559del	XP_006720555.1:p.Lys186GlufsTer6
XM_006720493.2:c.556_559del	XP_006720556.1:p.Lys186GlufsTer6
XM_006720494.2:c.556_559del	XP_006720557.1:p.Lys186GlufsTer6
XM_006720495.2:c.556_559del	XP_006720558.1:p.Lys186GlufsTer6
XM_011521523.1:c.556_559del	XP_011519825.1:p.Lys186GlufsTer6
XM_011521524.1:c.556_559del	XP_011519826.1:p.Lys186GlufsTer6
XR_243097.3:n.556_559del
XR_243098.2:n.556_559del
XR_429453.2:n.657_660del
NM_001159508.2:c.457_460del	NP_001152980.2:p.Lys153GlufsTer6
NM_001354597.2:c.499_502del	NP_001341526.1:p.Lys167GlufsTer6
NM_001354598.2:c.547_550del	NP_001341527.2:p.Lys183GlufsTer6
NM_001354599.2:c.634_637del	NP_001341528.2:p.Lys212GlufsTer6
NM_001354600.2:c.634_637del	NP_001341529.2:p.Lys212GlufsTer6
NM_001354601.2:c.547_550del	NP_001341530.2:p.Lys183GlufsTer6
NM_002225.4:c.547_550del	NP_002216.3:p.Lys183GlufsTer6
NR_148925.1:n.957_960del
XM_006720495.3:c.556_559del	XP_006720558.1:p.Lys186GlufsTer6
XM_017022149.1:c.643_646del	XP_016877638.1:p.Lys215GlufsTer6
XM_017022150.1:c.643_646del	XP_016877639.1:p.Lys215GlufsTer6
XM_017022153.1:c.643_646del	XP_016877642.1:p.Lys215GlufsTer6
XM_017022154.2:c.586_589del	XP_016877643.1:p.Lys196GlufsTer6
XM_017022155.2:c.643_646del	XP_016877644.1:p.Lys215GlufsTer6
XM_017022157.1:c.643_646del	XP_016877646.1:p.Lys215GlufsTer6
XM_017022158.2:c.643_646del	XP_016877647.1:p.Lys215GlufsTer6
XR_001751263.1:n.906_909del
XR_001751264.1:n.947_950del
NM_001159508.3:c.457_460del	NP_001152980.2:p.Lys153GlufsTer6
NM_001354597.3:c.499_502del	NP_001341526.1:p.Lys167GlufsTer6
NM_001354598.3:c.547_550del	NP_001341527.2:p.Lys183GlufsTer6
NM_001354599.3:c.634_637del	NP_001341528.2:p.Lys212GlufsTer6
NM_001354600.3:c.634_637del	NP_001341529.2:p.Lys212GlufsTer6
NM_001354601.3:c.547_550del	NP_001341530.2:p.Lys183GlufsTer6
NM_002225.5:c.547_550del MANE Select	NP_002216.3:p.Lys183GlufsTer6
NR_148925.2:n.959_962del