Canonical Allele Identifier: CA2793063390

Gene: CTSC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88312490_88312496del , CM000673.2:g.88312490_88312496del	GRCh38
NC_000011.9:g.88045658_88045664del , CM000673.1:g.88045658_88045664del	GRCh37
NC_000011.8:g.87685306_87685312del	NCBI36
NG_007952.1:g.30280_30286del , LRG_50:g.30280_30286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.379_385del MANE Select	ENSP00000227266.4:p.His127CysfsTer25
ENST00000527018.6:c.379_385del	ENSP00000432556.2:p.His127CysfsTer25
ENST00000533897.2:n.427_433del
ENST00000676612.1:c.*186_*192del	ENSP00000504440.1:n.*186_*192del
ENST00000677208.1:c.319-3176_319-3170del	ENSP00000504347.1:n.319-3176_319-3170del
ENST00000677661.1:c.*56_*62del	ENSP00000503323.1:n.*56_*62del
ENST00000677802.1:c.*56_*62del	ENSP00000504115.1:n.*56_*62del
ENST00000678395.1:c.379_385del	ENSP00000503123.1:p.His127CysfsTer?
ENST00000678464.1:c.379_385del	ENSP00000503046.1:p.His127CysfsTer25
ENST00000678506.1:c.379_385del	ENSP00000503580.1:p.His127CysfsTer?
ENST00000678520.1:c.*186_*192del	ENSP00000503361.1:n.*186_*192del
ENST00000678554.1:c.379_385del	ENSP00000504541.1:p.His127CysfsTer25
ENST00000678915.1:c.379_385del	ENSP00000504805.1:p.His127CysfsTer25
ENST00000679224.1:c.16_22del	ENSP00000504475.1:p.His6CysfsTer25
ENST00000227266.9:c.379_385del	ENSP00000227266.4:p.His127CysfsTer25
ENST00000527018.5:c.249_255del
ENST00000533865.5:n.401_407del
NM_001814.4:c.379_385del , LRG_50t1:c.379_385del	NP_001805.3:p.His127CysfsTer?
NM_001814.5:c.379_385del	NP_001805.3:p.His127CysfsTer?
NM_001814.6:c.379_385del MANE Select	NP_001805.4:p.His127CysfsTer25