Canonical Allele Identifier: CA1989490979

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312494_88312495delinsGC , CM000673.2:g.88312494_88312495delinsGC	GRCh38
NC_000011.9:g.88045662_88045663delinsGC , CM000673.1:g.88045662_88045663delinsGC	GRCh37
NC_000011.8:g.87685310_87685311delinsGC	NCBI36
NG_007952.1:g.30279_30280delinsGC , LRG_50:g.30279_30280delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.378_379delinsGC MANE Select	ENSP00000227266.4:p.Val126=
ENST00000527018.6:c.378_379delinsGC	ENSP00000432556.2:p.Val126=
ENST00000533897.2:n.426_427delinsGC
ENST00000676612.1:c.*185_*186delinsGC	ENSP00000504440.1:n.*185_*186delinsGC
ENST00000677208.1:c.319-3177_319-3176delinsGC	ENSP00000504347.1:n.319-3177_319-3176delinsGC
ENST00000677661.1:c.*55_*56delinsGC	ENSP00000503323.1:n.*55_*56delinsGC
ENST00000677802.1:c.*55_*56delinsGC	ENSP00000504115.1:n.*55_*56delinsGC
ENST00000678395.1:c.378_379delinsGC	ENSP00000503123.1:p.Val126=
ENST00000678464.1:c.378_379delinsGC	ENSP00000503046.1:p.Val126=
ENST00000678506.1:c.378_379delinsGC	ENSP00000503580.1:p.Val126=
ENST00000678520.1:c.*185_*186delinsGC	ENSP00000503361.1:n.*185_*186delinsGC
ENST00000678554.1:c.378_379delinsGC	ENSP00000504541.1:p.Val126=
ENST00000678915.1:c.378_379delinsGC	ENSP00000504805.1:p.Val126=
ENST00000679224.1:c.15_16delinsGC	ENSP00000504475.1:p.Val5=
ENST00000227266.9:c.378_379delinsGC	ENSP00000227266.4:p.Val126=
ENST00000527018.5:c.248_249delinsGC
ENST00000533865.5:n.400_401delinsGC
NM_001814.4:c.378_379delinsGC , LRG_50t1:c.378_379delinsGC	NP_001805.3:p.Val126=
NM_001814.5:c.378_379delinsGC	NP_001805.3:p.Val126=
NM_001814.6:c.378_379delinsGC MANE Select	NP_001805.4:p.Val126=