Canonical Allele Identifier: CA2611921990

Gene: CTSD

Linked Data

• gnomAD v4: 11-1757262-TCCCCGTCCAGCCCCGCCCTGCCTCCCAGCAACGCGGAGCGAGAGGGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757266_1757313del , CM000673.2:g.1757266_1757313del	GRCh38
NC_000011.9:g.1778496_1778543del , CM000673.1:g.1778496_1778543del	GRCh37
NC_000011.8:g.1735072_1735119del	NCBI36
NG_008655.1:g.11683_11730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.704+14_704+61del MANE Select	ENSP00000236671.2:n.704+14_704+61del
ENST00000367196.4:c.599+14_599+61del	ENSP00000356164.4:n.599+14_599+61del
ENST00000427721.3:c.129+14_129+61del
ENST00000429746.2:c.599+14_599+61del	ENSP00000402586.2:n.599+14_599+61del
ENST00000433655.6:c.704+14_704+61del	ENSP00000404902.1:n.704+14_704+61del
ENST00000438213.6:c.704+14_704+61del	ENSP00000415036.2:n.704+14_704+61del
ENST00000636397.1:c.704+14_704+61del	ENSP00000489910.1:n.704+14_704+61del
ENST00000636571.1:c.683+14_683+61del	ENSP00000490770.1:n.683+14_683+61del
ENST00000636615.1:c.704+14_704+61del	ENSP00000490014.1:n.704+14_704+61del
ENST00000636843.1:c.698+14_698+61del	ENSP00000490897.1:n.698+14_698+61del
ENST00000637158.1:n.302+14_302+61del
ENST00000637381.2:n.3132+14_3132+61del
ENST00000637387.1:c.704+14_704+61del	ENSP00000490598.1:n.704+14_704+61del
ENST00000637815.2:c.704+14_704+61del	ENSP00000490344.1:n.704+14_704+61del
ENST00000637915.1:c.704+14_704+61del	ENSP00000490471.1:n.704+14_704+61del
ENST00000678991.1:c.*565+14_*565+61del	ENSP00000503019.1:n.*565+14_*565+61del
ENST00000236671.6:c.704+14_704+61del	ENSP00000236671.2:n.704+14_704+61del
ENST00000427721.2:c.104+14_104+61del	ENSP00000415840.2:n.104+14_104+61del
ENST00000433655.5:c.704+14_704+61del	ENSP00000404902.1:n.704+14_704+61del
ENST00000438213.5:c.659+14_659+61del	ENSP00000415036.1:n.659+14_659+61del
NM_001909.4:c.704+14_704+61del	NP_001900.1:n.704+14_704+61del
NM_001909.5:c.704+14_704+61del MANE Select	NP_001900.1:n.704+14_704+61del