Canonical Allele Identifier: CA633199586
Community Standard Title: NM_001386298.1(CIC):c.7517dup (p.Pro2507ThrfsTer16)
Gene: CIC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42295154dup , CM000681.2:g.42295154dup GRCh38
NC_000019.9:g.42799306dup , CM000681.1:g.42799306dup GRCh37
NC_000019.8:g.47491146dup NCBI36
NG_042060.1:g.31618dup

Transcript Alleles

HGVS Amino-acid Change
NM_001386298.1:c.7517dup MANE Select NP_001373227.1:p.Pro2507ThrfsTer16
ENST00000681038.1:c.7517dup MANE Select ENSP00000505728.1:p.Pro2507ThrfsTer16
NM_001304815.1:c.7517dup NP_001291744.1:p.Pro2507ThrfsTer16
NM_001304815.2:c.7517dup NP_001291744.1:p.Pro2507ThrfsTer16
NM_001379480.1:c.7514dup NP_001366409.1:p.Pro2506ThrfsTer16
NM_001379482.1:c.7514dup NP_001366411.1:p.Pro2506ThrfsTer16
NM_001379484.1:c.4784dup NP_001366413.1:p.Pro1596ThrfsTer16
NM_001379485.1:c.4781dup NP_001366414.1:p.Pro1595ThrfsTer16
NM_015125.4:c.4790dup NP_055940.3:p.Pro1598ThrfsTer16
NM_015125.5:c.4790dup NP_055940.3:p.Pro1598ThrfsTer16
ENST00000160740.7:c.4784dup ENSP00000160740.3:p.Pro1596ThrfsTer16
ENST00000572681.6:c.7508dup ENSP00000459719.1:p.Pro2504ThrfsTer16
ENST00000575354.6:c.4790dup ENSP00000458663.2:p.Pro1598ThrfsTer16
ENST00000576505.6:c.924dup
ENST00000684265.1:n.6597dup
XM_005258673.1:c.4784dup XP_005258730.1:p.Pro1596ThrfsTer16
XM_005258673.2:c.4784dup XP_005258730.1:p.Pro1596ThrfsTer16
XM_005258674.1:c.4784dup XP_005258731.1:p.Pro1596ThrfsTer16
XM_005258674.2:c.4784dup XP_005258731.1:p.Pro1596ThrfsTer16
XM_005258675.1:c.4781dup XP_005258732.1:p.Pro1595ThrfsTer16
XM_005258675.2:c.4781dup XP_005258732.1:p.Pro1595ThrfsTer16
XM_011526660.1:c.7517dup XP_011524962.1:p.Pro2507ThrfsTer16
XM_011526660.2:c.7517dup XP_011524962.1:p.Pro2507ThrfsTer16
XM_011526661.1:c.7514dup XP_011524963.1:p.Pro2506ThrfsTer16
XM_011526661.2:c.7514dup XP_011524963.1:p.Pro2506ThrfsTer16
XM_011526662.1:c.7514dup XP_011524964.1:p.Pro2506ThrfsTer16
XM_011526662.2:c.7514dup XP_011524964.1:p.Pro2506ThrfsTer16
XM_011526663.1:c.7514dup XP_011524965.1:p.Pro2506ThrfsTer16
XM_011526663.2:c.7514dup XP_011524965.1:p.Pro2506ThrfsTer16
XM_011526664.1:c.7511dup XP_011524966.1:p.Pro2505ThrfsTer16
XM_011526664.2:c.7511dup XP_011524966.1:p.Pro2505ThrfsTer16
XM_011526665.1:c.7511dup XP_011524967.1:p.Pro2505ThrfsTer16
XM_011526665.2:c.7511dup XP_011524967.1:p.Pro2505ThrfsTer16
XM_011526666.1:c.7508dup XP_011524968.1:p.Pro2504ThrfsTer16
XM_011526666.2:c.7508dup XP_011524968.1:p.Pro2504ThrfsTer16
XM_024451432.1:c.7511dup XP_024307200.1:p.Pro2505ThrfsTer16
XM_024451433.1:c.7508dup XP_024307201.1:p.Pro2504ThrfsTer16
XR_002958286.1:n.7460dup
XR_002958287.1:n.7457dup
XR_002958288.1:n.7439dup
XR_002958289.1:n.7436dup
XR_002958290.1:n.7436dup