Canonical Allele Identifier: CA940568636

Gene: CTSC

Linked Data

• dbSNP Id: rs1944345878
• gnomAD v3: 11-88300415-T-TA
• gnomAD v4: 11-88300415-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88300420dup , CM000673.2:g.88300420dup	GRCh38
NC_000011.9:g.88033588dup , CM000673.1:g.88033588dup	GRCh37
NC_000011.8:g.87673236dup	NCBI36
NG_007952.1:g.42358dup , LRG_50:g.42358dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.757+114dup MANE Select	ENSP00000227266.4:n.757+114dup
ENST00000527018.6:c.757+114dup	ENSP00000432556.2:n.757+114dup
ENST00000533897.2:n.919dup
ENST00000676612.1:c.*564+114dup	ENSP00000504440.1:n.*564+114dup
ENST00000677208.1:c.*263+114dup	ENSP00000504347.1:n.*263+114dup
ENST00000677661.1:c.*434+114dup	ENSP00000503323.1:n.*434+114dup
ENST00000677802.1:c.*434+114dup	ENSP00000504115.1:n.*434+114dup
ENST00000678065.1:n.431dup
ENST00000678395.1:c.*263+114dup	ENSP00000503123.1:n.*263+114dup
ENST00000678464.1:c.757+114dup	ENSP00000503046.1:n.757+114dup
ENST00000678506.1:c.718+114dup	ENSP00000503580.1:n.718+114dup
ENST00000678520.1:c.*408+114dup	ENSP00000503361.1:n.*408+114dup
ENST00000678554.1:c.757+114dup	ENSP00000504541.1:n.757+114dup
ENST00000678915.1:c.757+114dup	ENSP00000504805.1:n.757+114dup
ENST00000679224.1:c.394+114dup	ENSP00000504475.1:n.394+114dup
ENST00000227266.9:c.757+114dup	ENSP00000227266.4:n.757+114dup
ENST00000527018.5:c.627+114dup
NM_001814.4:c.757+114dup , LRG_50t1:c.757+114dup	NP_001805.3:n.757+114dup
NM_001814.5:c.757+114dup	NP_001805.3:n.757+114dup
NM_001814.6:c.757+114dup MANE Select	NP_001805.4:n.757+114dup