Canonical Allele Identifier: CA1404288048

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262227_136262231delinsAAAGC , CM000665.2:g.136262227_136262231delinsAAAGC	GRCh38
NC_000003.11:g.135981069_135981073delinsAAAGC , CM000665.1:g.135981069_135981073delinsAAAGC	GRCh37
NC_000003.10:g.137463759_137463763delinsAAAGC	NCBI36
NG_008939.1:g.16903_16907delinsAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+162_543+166delinsAAAGC MANE Select	ENSP00000251654.4:n.543+162_543+166delinsAAAGC
ENST00000251654.8:c.543+162_543+166delinsAAAGC	ENSP00000251654.4:n.543+162_543+166delinsAAAGC
ENST00000459873.1:c.294+162_294+166delinsAAAGC	ENSP00000419293.1:n.294+162_294+166delinsAAAGC
ENST00000462542.5:c.410+162_410+166delinsAAAGC
ENST00000462637.5:c.474+162_474+166delinsAAAGC	ENSP00000420391.1:n.474+162_474+166delinsAAAGC
ENST00000465176.5:n.505+162_505+166delinsAAAGC
ENST00000466072.5:c.543+162_543+166delinsAAAGC	ENSP00000420158.1:n.543+162_543+166delinsAAAGC
ENST00000468777.5:c.636+162_636+166delinsAAAGC	ENSP00000419129.1:n.636+162_636+166delinsAAAGC
ENST00000469217.5:c.603+162_603+166delinsAAAGC	ENSP00000419027.1:n.603+162_603+166delinsAAAGC
ENST00000471595.5:c.543+162_543+166delinsAAAGC	ENSP00000417549.1:n.543+162_543+166delinsAAAGC
ENST00000473073.1:n.500+162_500+166delinsAAAGC
ENST00000474833.5:n.168+11669_168+11673delinsAAAGC
ENST00000475214.5:n.457+162_457+166delinsAAAGC
ENST00000478469.5:c.543+162_543+166delinsAAAGC	ENSP00000420759.1:n.543+162_543+166delinsAAAGC
ENST00000482086.5:c.195+162_195+166delinsAAAGC	ENSP00000417253.1:n.195+162_195+166delinsAAAGC
ENST00000483687.5:c.486+162_486+166delinsAAAGC	ENSP00000420639.1:n.486+162_486+166delinsAAAGC
ENST00000484181.5:c.543+162_543+166delinsAAAGC	ENSP00000417937.1:n.543+162_543+166delinsAAAGC
ENST00000490504.5:c.372+5604_372+5608delinsAAAGC	ENSP00000418307.1:n.372+5604_372+5608delinsAAAGC
NM_000532.4:c.543+162_543+166delinsAAAGC	NP_000523.2:n.543+162_543+166delinsAAAGC
NM_001178014.1:c.603+162_603+166delinsAAAGC	NP_001171485.1:n.603+162_603+166delinsAAAGC
XM_011512873.1:c.543+162_543+166delinsAAAGC	XP_011511175.1:n.543+162_543+166delinsAAAGC
XM_011512873.2:c.543+162_543+166delinsAAAGC	XP_011511175.1:n.543+162_543+166delinsAAAGC
NM_000532.5:c.543+162_543+166delinsAAAGC MANE Select	NP_000523.2:n.543+162_543+166delinsAAAGC
NM_001178014.2:c.603+162_603+166delinsAAAGC	NP_001171485.1:n.603+162_603+166delinsAAAGC