Canonical Allele Identifier: CA2574736127

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753561_1753562insCAATCACAGTGT , CM000673.2:g.1753561_1753562insCAATCACAGTGT	GRCh38
NC_000011.9:g.1774791_1774792insCAATCACAGTGT , CM000673.1:g.1774791_1774792insCAATCACAGTGT	GRCh37
NC_000011.8:g.1731367_1731368insCAATCACAGTGT	NCBI36
NG_008655.1:g.15439_15440insATTGACACTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.1188_1189insATTGACACTGTG MANE Select	ENSP00000236671.2:p.Val396_Phe397insIleAs...
ENST00000367196.4:c.1083_1084insATTGACACTGTG	ENSP00000356164.4:p.Val361_Phe362insIleAs...
ENST00000427721.3:c.613_614insATTGACACTGTG
ENST00000429746.2:c.1083_1084insATTGACACTGTG	ENSP00000402586.2:p.Val361_Phe362insIleAs...
ENST00000433655.6:c.*354_*355insATTGACACTGTG	ENSP00000404902.1:n.*354_*355insATTGACACT...
ENST00000438213.6:c.1305_1306insATTGACACTGTG	ENSP00000415036.2:p.Val435_Phe436insIleAs...
ENST00000636397.1:c.1071+249_1071+250insATTGACACTGTG	ENSP00000489910.1:n.1071+249_1071+250insA...
ENST00000636571.1:c.1167_1168insATTGACACTGTG	ENSP00000490770.1:p.Val389_Phe390insIleAs...
ENST00000636579.1:c.72+249_72+250insATTGACACTGTG	ENSP00000490489.1:n.72+249_72+250insATTGA...
ENST00000636615.1:c.1071+249_1071+250insATTGACACTGTG	ENSP00000490014.1:n.1071+249_1071+250insA...
ENST00000636843.1:c.1182_1183insATTGACACTGTG	ENSP00000490897.1:p.Val394_Phe395insIleAs...
ENST00000637158.1:n.786_787insATTGACACTGTG
ENST00000637381.2:n.3616_3617insATTGACACTGTG
ENST00000637387.1:c.1167_1168insATTGACACTGTG	ENSP00000490598.1:p.Val389_Phe390insIleAs...
ENST00000637815.2:c.1170_1171insATTGACACTGTG	ENSP00000490344.1:p.Val390_Phe391insIleAs...
ENST00000637915.1:c.1179_1180insATTGACACTGTG	ENSP00000490471.1:p.Val393_Phe394insIleAs...
ENST00000637937.1:n.496_497insATTGACACTGTG
ENST00000678991.1:c.*1049_*1050insATTGACACTGTG	ENSP00000503019.1:n.*1049_*1050insATTGACA...
ENST00000236671.6:c.1188_1189insATTGACACTGTG	ENSP00000236671.2:p.Val396_Phe397insIleAs...
ENST00000427721.2:c.471+249_471+250insATTGACACTGTG	ENSP00000415840.2:n.471+249_471+250insATT...
ENST00000429746.1:c.519_520insATTGACACTGTG	ENSP00000402586.1:p.Val173_Phe174insIleAs...
ENST00000433655.5:c.*354_*355insATTGACACTGTG	ENSP00000404902.1:n.*354_*355insATTGACACT...
NM_001909.4:c.1188_1189insATTGACACTGTG	NP_001900.1:p.Val396_Phe397insIleAspThrVa...
NM_001909.5:c.1188_1189insATTGACACTGTG MANE Select	NP_001900.1:p.Val396_Phe397insIleAspThrVa...