Canonical Allele Identifier: CA2695215230

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294409_88294415del , CM000673.2:g.88294409_88294415del	GRCh38
NC_000011.9:g.88027577_88027583del , CM000673.1:g.88027577_88027583del	GRCh37
NC_000011.8:g.87667225_87667231del	NCBI36
NG_007952.1:g.48361_48367del , LRG_50:g.48361_48367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.985_991del MANE Select	ENSP00000227266.4:p.Ser329AlafsTer3
ENST00000533897.2:n.5298_5304del
ENST00000676612.1:c.*792_*798del	ENSP00000504440.1:n.*792_*798del
ENST00000677208.1:c.*491_*497del	ENSP00000504347.1:n.*491_*497del
ENST00000677661.1:c.*662_*668del	ENSP00000503323.1:n.*662_*668del
ENST00000677802.1:c.*662_*668del	ENSP00000504115.1:n.*662_*668del
ENST00000678395.1:c.*491_*497del	ENSP00000503123.1:n.*491_*497del
ENST00000678464.1:c.952_958del	ENSP00000503046.1:p.Ser318AlafsTer3
ENST00000678506.1:c.946_952del	ENSP00000503580.1:p.Ser316AlafsTer3
ENST00000678520.1:c.*636_*642del	ENSP00000503361.1:n.*636_*642del
ENST00000678554.1:c.889+1720_889+1726del	ENSP00000504541.1:n.889+1720_889+1726del
ENST00000678915.1:c.853_859del	ENSP00000504805.1:p.Ser285AlafsTer3
ENST00000679224.1:c.622_628del	ENSP00000504475.1:p.Ser208AlafsTer3
ENST00000227266.9:c.985_991del	ENSP00000227266.4:p.Ser329AlafsTer3
ENST00000533897.1:n.3719_3725del
NM_001814.4:c.985_991del , LRG_50t1:c.985_991del	NP_001805.3:p.Ser329AlafsTer3
NM_001814.5:c.985_991del	NP_001805.3:p.Ser329AlafsTer3
NM_001814.6:c.985_991del MANE Select	NP_001805.4:p.Ser329AlafsTer3