Canonical Allele Identifier: CA2580097348

Gene: CIC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42294249del , CM000681.2:g.42294249del	GRCh38
NC_000019.9:g.42798401del , CM000681.1:g.42798401del	GRCh37
NC_000019.8:g.47490241del	NCBI36
NG_042060.1:g.30713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684265.1:n.6079del
ENST00000681038.1:c.6999del MANE Select	ENSP00000505728.1:p.Asn2334ThrfsTer29
ENST00000160740.7:c.4266del	ENSP00000160740.3:p.Asn1423ThrfsTer29
ENST00000572681.6:c.6990del	ENSP00000459719.1:p.Asn2331ThrfsTer29
ENST00000573349.5:c.459del	ENSP00000458543.1:p.Asn154ThrfsTer27
ENST00000575287.1:c.318del	ENSP00000460230.1:p.Asn107ThrfsTer?
ENST00000575354.6:c.4272del	ENSP00000458663.2:p.Asn1425ThrfsTer29
ENST00000576505.6:c.412del
NM_001304815.1:c.6999del	NP_001291744.1:p.Asn2334ThrfsTer29
NM_015125.4:c.4272del	NP_055940.3:p.Asn1425ThrfsTer29
XM_005258673.1:c.4266del	XP_005258730.1:p.Asn1423ThrfsTer29
XM_005258674.1:c.4266del	XP_005258731.1:p.Asn1423ThrfsTer29
XM_005258675.1:c.4263del	XP_005258732.1:p.Asn1422ThrfsTer29
XM_011526660.1:c.6999del	XP_011524962.1:p.Asn2334ThrfsTer29
XM_011526661.1:c.6996del	XP_011524963.1:p.Asn2333ThrfsTer29
XM_011526662.1:c.6996del	XP_011524964.1:p.Asn2333ThrfsTer29
XM_011526663.1:c.6996del	XP_011524965.1:p.Asn2333ThrfsTer29
XM_011526664.1:c.6993del	XP_011524966.1:p.Asn2332ThrfsTer29
XM_011526665.1:c.6999del	XP_011524967.1:p.Asn2334ThrfsTer27
XM_011526666.1:c.6996del	XP_011524968.1:p.Asn2333ThrfsTer27
XM_005258673.2:c.4266del	XP_005258730.1:p.Asn1423ThrfsTer29
XM_005258674.2:c.4266del	XP_005258731.1:p.Asn1423ThrfsTer29
XM_005258675.2:c.4263del	XP_005258732.1:p.Asn1422ThrfsTer29
XM_011526660.2:c.6999del	XP_011524962.1:p.Asn2334ThrfsTer29
XM_011526661.2:c.6996del	XP_011524963.1:p.Asn2333ThrfsTer29
XM_011526662.2:c.6996del	XP_011524964.1:p.Asn2333ThrfsTer29
XM_011526663.2:c.6996del	XP_011524965.1:p.Asn2333ThrfsTer29
XM_011526664.2:c.6993del	XP_011524966.1:p.Asn2332ThrfsTer29
XM_011526665.2:c.6999del	XP_011524967.1:p.Asn2334ThrfsTer27
XM_011526666.2:c.6996del	XP_011524968.1:p.Asn2333ThrfsTer27
XM_024451432.1:c.6993del	XP_024307200.1:p.Asn2332ThrfsTer29
XM_024451433.1:c.6996del	XP_024307201.1:p.Asn2333ThrfsTer27
XR_002958286.1:n.6942del
XR_002958287.1:n.6939del
XR_002958288.1:n.6921del
XR_002958289.1:n.6918del
XR_002958290.1:n.6918del
NM_001304815.2:c.6999del	NP_001291744.1:p.Asn2334ThrfsTer29
NM_001379480.1:c.6996del	NP_001366409.1:p.Asn2333ThrfsTer29
NM_001379482.1:c.6996del	NP_001366411.1:p.Asn2333ThrfsTer29
NM_001379484.1:c.4272del	NP_001366413.1:p.Asn1425ThrfsTer27
NM_001379485.1:c.4269del	NP_001366414.1:p.Asn1424ThrfsTer27
NM_001386298.1:c.6999del MANE Select	NP_001373227.1:p.Asn2334ThrfsTer29
NM_015125.5:c.4272del	NP_055940.3:p.Asn1425ThrfsTer29