Canonical Allele Identifier: CA1989482755

Gene: CTSC

Linked Data

• dbSNP Id: rs1944275634

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294354_88294355insCTGAGTACC , CM000673.2:g.88294354_88294355insCTGAGTACC	GRCh38
NC_000011.9:g.88027522_88027523insCTGAGTACC , CM000673.1:g.88027522_88027523insCTGAGTACC	GRCh37
NC_000011.8:g.87667170_87667171insCTGAGTACC	NCBI36
NG_007952.1:g.48419_48420insGGTACTCAG , LRG_50:g.48419_48420insGGTACTCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.1043_1044insGGTACTCAG MANE Select	ENSP00000227266.4:p.Val348_Gly349insValLe...
ENST00000533897.2:n.5356_5357insGGTACTCAG
ENST00000676612.1:c.*850_*851insGGTACTCAG	ENSP00000504440.1:n.*850_*851insGGTACTCAG...
ENST00000677208.1:c.*549_*550insGGTACTCAG	ENSP00000504347.1:n.*549_*550insGGTACTCAG...
ENST00000677661.1:c.*720_*721insGGTACTCAG	ENSP00000503323.1:n.*720_*721insGGTACTCAG...
ENST00000677802.1:c.*720_*721insGGTACTCAG	ENSP00000504115.1:n.*720_*721insGGTACTCAG...
ENST00000678395.1:c.*549_*550insGGTACTCAG	ENSP00000503123.1:n.*549_*550insGGTACTCAG...
ENST00000678464.1:c.1010_1011insGGTACTCAG	ENSP00000503046.1:p.Val337_Gly338insValLe...
ENST00000678506.1:c.1004_1005insGGTACTCAG	ENSP00000503580.1:p.Val335_Gly336insValLe...
ENST00000678520.1:c.*694_*695insGGTACTCAG	ENSP00000503361.1:n.*694_*695insGGTACTCAG...
ENST00000678554.1:c.889+1778_889+1779insGGTACTCAG	ENSP00000504541.1:n.889+1778_889+1779insG...
ENST00000678915.1:c.911_912insGGTACTCAG	ENSP00000504805.1:p.Val304_Gly305insValLe...
ENST00000679224.1:c.680_681insGGTACTCAG	ENSP00000504475.1:p.Val227_Gly228insValLe...
ENST00000227266.9:c.1043_1044insGGTACTCAG	ENSP00000227266.4:p.Val348_Gly349insValLe...
ENST00000533897.1:n.3777_3778insGGTACTCAG
NM_001814.4:c.1043_1044insGGTACTCAG , LRG_50t1:c.1043_1044insGGTACTCAG	NP_001805.3:p.Val348_Gly349insValLeuArg
NM_001814.5:c.1043_1044insGGTACTCAG	NP_001805.3:p.Val348_Gly349insValLeuArg
NM_001814.6:c.1043_1044insGGTACTCAG MANE Select	NP_001805.4:p.Val348_Gly349insValLeuArg