Canonical Allele Identifier: CA1404288061

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262241_136262273delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA , CM000665.2:g.136262241_136262273delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	GRCh38
NC_000003.11:g.135981083_135981115delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA , CM000665.1:g.135981083_135981115delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	GRCh37
NC_000003.10:g.137463773_137463805delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	NCBI36
NG_008939.1:g.16917_16949delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA MANE Select	ENSP00000251654.4:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000251654.8:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000251654.4:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000459873.1:c.294+176_294+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000419293.1:n.294+176_294+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000462542.5:c.410+176_410+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA
ENST00000462637.5:c.474+176_474+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000420391.1:n.474+176_474+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000465176.5:n.505+176_505+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA
ENST00000466072.5:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000420158.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000468777.5:c.636+176_636+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000419129.1:n.636+176_636+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000469217.5:c.603+176_603+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000419027.1:n.603+176_603+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000471595.5:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000417549.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000473073.1:n.500+176_500+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA
ENST00000474833.5:n.168+11683_168+11715delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA
ENST00000475214.5:n.457+176_457+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA
ENST00000478469.5:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000420759.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000482086.5:c.195+176_195+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000417253.1:n.195+176_195+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000483687.5:c.486+176_486+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000420639.1:n.486+176_486+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000484181.5:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000417937.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCAT...
ENST00000490504.5:c.372+5618_372+5650delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	ENSP00000418307.1:n.372+5618_372+5650delinsTGGGAAGAGAGGGTTTTC...
NM_000532.4:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	NP_000523.2:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTC...
NM_001178014.1:c.603+176_603+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	NP_001171485.1:n.603+176_603+208delinsTGGGAAGAGAGGGTTTTCATTTT...
XM_011512873.1:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	XP_011511175.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTT...
XM_011512873.2:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	XP_011511175.1:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTT...
NM_000532.5:c.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA MANE Select	NP_000523.2:n.543+176_543+208delinsTGGGAAGAGAGGGTTTTCATTTTTTC...
NM_001178014.2:c.603+176_603+208delinsTGGGAAGAGAGGGTTTTCATTTTTTCTAACAGA	NP_001171485.1:n.603+176_603+208delinsTGGGAAGAGAGGGTTTTCATTTT...