Allele Registry

Canonical Allele Identifier: CA163388

Gene: CTSC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.88294342del

GRCh37 chr11:g.88027510del

Linked Data - Sequence & Population

gnomAD v3:

11:88294341 CA / C

gnomAD v4:

chr11-88294341-CA-C

Joint Max Group AF 6.8e-7 (NFE)

Exomes Max Group AF 7.2e-7 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000128618

ClinVar Variation:

139654

dbSNP:

587777532

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294342del , CM000673.2:g.88294342del	GRCh38
NC_000011.9:g.88027510del , CM000673.1:g.88027510del	GRCh37
NC_000011.8:g.87667158del	NCBI36
NG_007952.1:g.48432del , LRG_50:g.48432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227266.10:c.1056del MANE Select	ENSP00000227266.4:p.Tyr352Ter
ENST00000533897.2:n.5369del
ENST00000676612.1:c.*863del	ENSP00000504440.1:n.*863del
ENST00000677208.1:c.*562del	ENSP00000504347.1:n.*562del
ENST00000677661.1:c.*733del	ENSP00000503323.1:n.*733del
ENST00000677802.1:c.*733del	ENSP00000504115.1:n.*733del
ENST00000678395.1:c.*562del	ENSP00000503123.1:n.*562del
ENST00000678464.1:c.1023del	ENSP00000503046.1:p.Tyr341Ter
ENST00000678506.1:c.1017del	ENSP00000503580.1:p.Tyr339Ter
ENST00000678520.1:c.*707del	ENSP00000503361.1:n.*707del
ENST00000678554.1:c.889+1791del	ENSP00000504541.1:n.889+1791del
ENST00000678915.1:c.924del	ENSP00000504805.1:p.Tyr308Ter
ENST00000679224.1:c.693del	ENSP00000504475.1:p.Tyr231Ter
ENST00000227266.9:c.1056del	ENSP00000227266.4:p.Tyr352Ter
ENST00000533897.1:n.3790del
NM_001814.4:c.1056del , LRG_50t1:c.1056del	NP_001805.3:p.Tyr352Ter
NM_001814.5:c.1056del	NP_001805.3:p.Tyr352Ter
NM_001814.6:c.1056del MANE Select	NP_001805.4:p.Tyr352Ter

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