Canonical Allele Identifier: CA2580097350

Gene: CIC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42295073_42295087dup , CM000681.2:g.42295073_42295087dup	GRCh38
NC_000019.9:g.42799225_42799239dup , CM000681.1:g.42799225_42799239dup	GRCh37
NC_000019.8:g.47491065_47491079dup	NCBI36
NG_042060.1:g.31537_31551dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001386298.1:c.7436_7450dup MANE Select	NP_001373227.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
ENST00000681038.1:c.7436_7450dup MANE Select	ENSP00000505728.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
NM_001304815.1:c.7436_7450dup	NP_001291744.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
NM_001304815.2:c.7436_7450dup	NP_001291744.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
NM_001379480.1:c.7433_7447dup	NP_001366409.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
NM_001379482.1:c.7433_7447dup	NP_001366411.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
NM_001379484.1:c.4703_4717dup	NP_001366413.1:p.Pro1572_Leu1573insGlnAlaAlaProPro
NM_001379485.1:c.4700_4714dup	NP_001366414.1:p.Pro1571_Leu1572insGlnAlaAlaProPro
NM_015125.4:c.4709_4723dup	NP_055940.3:p.Pro1574_Leu1575insGlnAlaAlaProPro
NM_015125.5:c.4709_4723dup	NP_055940.3:p.Pro1574_Leu1575insGlnAlaAlaProPro
ENST00000160740.7:c.4703_4717dup	ENSP00000160740.3:p.Pro1572_Leu1573insGlnAlaAlaProPro
ENST00000572681.6:c.7427_7441dup	ENSP00000459719.1:p.Pro2480_Leu2481insGlnAlaAlaProPro
ENST00000573349.5:c.890_904dup	ENSP00000458543.1:p.Pro301_Leu302insGlnAlaAlaProPro
ENST00000575287.1:c.784_798dup	ENSP00000460230.1:n.784_798dup
ENST00000575354.6:c.4709_4723dup	ENSP00000458663.2:p.Pro1574_Leu1575insGlnAlaAlaProPro
ENST00000576505.6:c.843_857dup
ENST00000684265.1:n.6516_6530dup
XM_005258673.1:c.4703_4717dup	XP_005258730.1:p.Pro1572_Leu1573insGlnAlaAlaProPro
XM_005258673.2:c.4703_4717dup	XP_005258730.1:p.Pro1572_Leu1573insGlnAlaAlaProPro
XM_005258674.1:c.4703_4717dup	XP_005258731.1:p.Pro1572_Leu1573insGlnAlaAlaProPro
XM_005258674.2:c.4703_4717dup	XP_005258731.1:p.Pro1572_Leu1573insGlnAlaAlaProPro
XM_005258675.1:c.4700_4714dup	XP_005258732.1:p.Pro1571_Leu1572insGlnAlaAlaProPro
XM_005258675.2:c.4700_4714dup	XP_005258732.1:p.Pro1571_Leu1572insGlnAlaAlaProPro
XM_011526660.1:c.7436_7450dup	XP_011524962.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
XM_011526660.2:c.7436_7450dup	XP_011524962.1:p.Pro2483_Leu2484insGlnAlaAlaProPro
XM_011526661.1:c.7433_7447dup	XP_011524963.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526661.2:c.7433_7447dup	XP_011524963.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526662.1:c.7433_7447dup	XP_011524964.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526662.2:c.7433_7447dup	XP_011524964.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526663.1:c.7433_7447dup	XP_011524965.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526663.2:c.7433_7447dup	XP_011524965.1:p.Pro2482_Leu2483insGlnAlaAlaProPro
XM_011526664.1:c.7430_7444dup	XP_011524966.1:p.Pro2481_Leu2482insGlnAlaAlaProPro
XM_011526664.2:c.7430_7444dup	XP_011524966.1:p.Pro2481_Leu2482insGlnAlaAlaProPro
XM_011526665.1:c.7430_7444dup	XP_011524967.1:p.Pro2481_Leu2482insGlnAlaAlaProPro
XM_011526665.2:c.7430_7444dup	XP_011524967.1:p.Pro2481_Leu2482insGlnAlaAlaProPro
XM_011526666.1:c.7427_7441dup	XP_011524968.1:p.Pro2480_Leu2481insGlnAlaAlaProPro
XM_011526666.2:c.7427_7441dup	XP_011524968.1:p.Pro2480_Leu2481insGlnAlaAlaProPro
XM_024451432.1:c.7430_7444dup	XP_024307200.1:p.Pro2481_Leu2482insGlnAlaAlaProPro
XM_024451433.1:c.7427_7441dup	XP_024307201.1:p.Pro2480_Leu2481insGlnAlaAlaProPro
XR_002958286.1:n.7379_7393dup
XR_002958287.1:n.7376_7390dup
XR_002958288.1:n.7358_7372dup
XR_002958289.1:n.7355_7369dup
XR_002958290.1:n.7355_7369dup