Canonical Allele Identifier: CA5814282

Gene: CTSD

Linked Data

• dbSNP Id: rs756977826
• ExAC: 11:1782630 A / AGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC
• gnomAD v2: 11-1782630-A-AGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC
• gnomAD v4: 11-1761400-A-AGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC
• MyVariant Identifiers: chr11:g.1782630_1782631insGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC (hg19) ; chr11:g.1761400_1761401insGGTCCTCCACAGAGCCCCCAACCTCCGACATGGTCCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1761403_1761441dup , CM000673.2:g.1761403_1761441dup	GRCh38
NC_000011.9:g.1782633_1782671dup , CM000673.1:g.1782633_1782671dup	GRCh37
NC_000011.8:g.1739209_1739247dup	NCBI36
NG_008655.1:g.7554_7592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.98_136dup MANE Select	ENSP00000236671.2:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000367196.4:c.-8_31dup	ENSP00000356164.4:p.Asp10_Leu11insArgArgThrMetSerGluValGlyGly...
ENST00000429746.2:c.-8_31dup	ENSP00000402586.2:p.Asp10_Leu11insArgArgThrMetSerGluValGlyGly...
ENST00000433655.6:c.98_136dup	ENSP00000404902.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000438213.6:c.98_136dup	ENSP00000415036.2:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000636397.1:c.98_136dup	ENSP00000489910.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000636571.1:c.98_136dup	ENSP00000490770.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000636615.1:c.98_136dup	ENSP00000490014.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000636843.1:c.98_136dup	ENSP00000490897.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000637381.2:n.2526_2564dup
ENST00000637387.1:c.98_136dup	ENSP00000490598.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000637815.2:c.98_136dup	ENSP00000490344.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000637915.1:c.98_136dup	ENSP00000490471.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000678991.1:c.241_279dup	ENSP00000503019.1:p.Thr93_Ter94insAlaGlyProCysArgArgLeuGlyAla...
ENST00000236671.6:c.98_136dup	ENSP00000236671.2:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000367196.3:c.-8_31dup	ENSP00000356164.3:p.Asp10_Leu11insArgArgThrMetSerGluValGlyGly...
ENST00000433655.5:c.98_136dup	ENSP00000404902.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGly...
ENST00000438213.5:c.53_91dup	ENSP00000415036.1:p.Asp30_Leu31insArgArgThrMetSerGluValGlyGly...
NM_001909.4:c.98_136dup	NP_001900.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGlySerVal...
NM_001909.5:c.98_136dup MANE Select	NP_001900.1:p.Asp45_Leu46insArgArgThrMetSerGluValGlyGlySerVal...