Canonical Allele Identifier: CA2574944997

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294449_88294451del , CM000673.2:g.88294449_88294451del	GRCh38
NC_000011.9:g.88027617_88027619del , CM000673.1:g.88027617_88027619del	GRCh37
NC_000011.8:g.87667265_87667267del	NCBI36
NG_007952.1:g.48326_48328del , LRG_50:g.48326_48328del

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.950_952del MANE Select	ENSP00000227266.4:p.Val317del
ENST00000533897.2:n.5263_5265del
ENST00000676612.1:c.*757_*759del	ENSP00000504440.1:n.*757_*759del
ENST00000677208.1:c.*456_*458del	ENSP00000504347.1:n.*456_*458del
ENST00000677661.1:c.*627_*629del	ENSP00000503323.1:n.*627_*629del
ENST00000677802.1:c.*627_*629del	ENSP00000504115.1:n.*627_*629del
ENST00000678395.1:c.*456_*458del	ENSP00000503123.1:n.*456_*458del
ENST00000678464.1:c.917_919del	ENSP00000503046.1:p.Val306del
ENST00000678506.1:c.911_913del	ENSP00000503580.1:p.Val304del
ENST00000678520.1:c.*601_*603del	ENSP00000503361.1:n.*601_*603del
ENST00000678554.1:c.889+1685_889+1687del	ENSP00000504541.1:n.889+1685_889+1687del
ENST00000678915.1:c.818_820del	ENSP00000504805.1:p.Val273del
ENST00000679224.1:c.587_589del	ENSP00000504475.1:p.Val196del
ENST00000227266.9:c.950_952del	ENSP00000227266.4:p.Val317del
ENST00000533897.1:n.3684_3686del
NM_001814.4:c.950_952del , LRG_50t1:c.950_952del	NP_001805.3:p.Val317del
NM_001814.5:c.950_952del	NP_001805.3:p.Val317del
NM_001814.6:c.950_952del MANE Select	NP_001805.4:p.Val317del