Canonical Allele Identifier: CA1947825349

Gene: CTSD

Linked Data

• dbSNP Id: rs1845761960
• gnomAD v4: 11-1753958-C-CCAGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753963_1753964insGCAGCC , CM000673.2:g.1753963_1753964insGCAGCC	GRCh38
NC_000011.9:g.1775193_1775194insGCAGCC , CM000673.1:g.1775193_1775194insGCAGCC	GRCh37
NC_000011.8:g.1731769_1731770insGCAGCC	NCBI36
NG_008655.1:g.15034_15035insCGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.972+35_972+36insCGGCTG MANE Select	ENSP00000236671.2:n.972+35_972+36insCGGCTG
ENST00000367196.4:c.867+35_867+36insCGGCTG	ENSP00000356164.4:n.867+35_867+36insCGGCTG
ENST00000427721.3:c.397+35_397+36insCGGCTG
ENST00000429746.2:c.867+35_867+36insCGGCTG	ENSP00000402586.2:n.867+35_867+36insCGGCTG
ENST00000433655.6:c.*138+35_*138+36insCGGCTG	ENSP00000404902.1:n.*138+35_*138+36insCGGCTG
ENST00000438213.6:c.1089+35_1089+36insCGGCTG	ENSP00000415036.2:n.1089+35_1089+36insCGGCTG
ENST00000497544.3:n.623_624insCGGCTG
ENST00000636397.1:c.972+35_972+36insCGGCTG	ENSP00000489910.1:n.972+35_972+36insCGGCTG
ENST00000636571.1:c.951+35_951+36insCGGCTG	ENSP00000490770.1:n.951+35_951+36insCGGCTG
ENST00000636615.1:c.972+35_972+36insCGGCTG	ENSP00000490014.1:n.972+35_972+36insCGGCTG
ENST00000636843.1:c.966+35_966+36insCGGCTG	ENSP00000490897.1:n.966+35_966+36insCGGCTG
ENST00000637158.1:n.570+35_570+36insCGGCTG
ENST00000637381.2:n.3400+35_3400+36insCGGCTG
ENST00000637387.1:c.972+35_972+36insCGGCTG	ENSP00000490598.1:n.972+35_972+36insCGGCTG
ENST00000637815.2:c.954+35_954+36insCGGCTG	ENSP00000490344.1:n.954+35_954+36insCGGCTG
ENST00000637915.1:c.972+35_972+36insCGGCTG	ENSP00000490471.1:n.972+35_972+36insCGGCTG
ENST00000637937.1:n.280+35_280+36insCGGCTG
ENST00000678991.1:c.*833+35_*833+36insCGGCTG	ENSP00000503019.1:n.*833+35_*833+36insCGGCTG
ENST00000236671.6:c.972+35_972+36insCGGCTG	ENSP00000236671.2:n.972+35_972+36insCGGCTG
ENST00000427721.2:c.372+35_372+36insCGGCTG	ENSP00000415840.2:n.372+35_372+36insCGGCTG
ENST00000429746.1:c.303+35_303+36insCGGCTG	ENSP00000402586.1:n.303+35_303+36insCGGCTG
ENST00000433655.5:c.*138+35_*138+36insCGGCTG	ENSP00000404902.1:n.*138+35_*138+36insCGGCTG
ENST00000497544.1:n.623_624insCGGCTG
NM_001909.4:c.972+35_972+36insCGGCTG	NP_001900.1:n.972+35_972+36insCGGCTG
NM_001909.5:c.972+35_972+36insCGGCTG MANE Select	NP_001900.1:n.972+35_972+36insCGGCTG