Canonical Allele Identifier: CA597430608
Gene: CTSD HGNC NCBI

Linked Data

gnomAD v2: 11-1775131-ACTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCAC-A
gnomAD v3: 11-1753901-ACTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCAC-A
gnomAD v4: 11-1753901-ACTAAGAGGGGTCACAGCAGTGTCAGGGTGGTAGTGGTGGCCTTGGGGCTCCCCCTGCCAGCCCCAGCCCCAGCCCCAGCCCCCGGCGCTCAC-A
MyVariant Identifiers: chr11:g.1775132_1775223del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753904_1753995del , CM000673.2:g.1753904_1753995del GRCh38
NC_000011.9:g.1775134_1775225del , CM000673.1:g.1775134_1775225del GRCh37
NC_000011.8:g.1731710_1731801del NCBI36
NG_008655.1:g.15000_15091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.972+1_973-1del
ENST00000367196.4:c.867+1_868-1del
ENST00000427721.3:c.397+1_398-1del
ENST00000429746.2:c.867+1_868-1del
ENST00000433655.6:c.*138+1_*139-1del
ENST00000438213.6:c.1089+1_1090-1del
ENST00000497544.3:n.589_680del
ENST00000636397.1:c.972+1_973-1del
ENST00000636571.1:c.951+1_952-1del
ENST00000636615.1:c.972+1_973-1del
ENST00000636843.1:c.966+1_967-1del
ENST00000637158.1:n.570+1_571-1del
ENST00000637381.2:n.3400+1_3401-1del
ENST00000637387.1:c.972+1_973-22del
ENST00000637815.2:c.954+1_955-1del
ENST00000637915.1:c.972+1_973-1del
ENST00000637937.1:n.280+1_281-1del
ENST00000678991.1:c.*833+1_*834-1del
ENST00000236671.6:c.972+1_973-1del
ENST00000427721.2:c.372+1_373-1del
ENST00000429746.1:c.303+1_304-1del
ENST00000433655.5:c.*138+1_*139-1del
ENST00000497544.1:n.589_680del
NM_001909.4:c.972+1_973-1del
NM_001909.5:c.972+1_973-1del
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