Canonical Allele Identifier: CA10048916
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs767709881
ExAC: 21:45194516 CCCTCCTGAGGCCCACACT / C
gnomAD v2: 21-45194516-CCCTCCTGAGGCCCACACT-C
gnomAD v4: 21-43774635-CCCTCCTGAGGCCCACACT-C
MyVariant Identifiers: chr21:g.45194517_45194534del (hg19) chr21:g.43774636_43774653del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774637_43774654del , CM000683.2:g.43774637_43774654del GRCh38
NC_000021.8:g.45194518_45194535del , CM000683.1:g.45194518_45194535del GRCh37
NC_000021.7:g.44018946_44018963del NCBI36
NG_011545.1:g.6726_6743del , LRG_485:g.6726_6743del

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.168+5_168+22del MANE Select ENSP00000291568.6:n.168+5_168+22del
ENST00000480147.3:n.1616_1633del
ENST00000639959.1:c.36-323_36-306del
ENST00000640406.1:c.173_190del ENSP00000492672.1:p.Glu58_Glu63del
ENST00000675996.1:n.593+5_593+22del
ENST00000291568.5:c.168+5_168+22del ENSP00000291568.5:n.168+5_168+22del
ENST00000480147.1:n.210_227del
NM_000100.3:c.168+5_168+22del , LRG_485t1:c.168+5_168+22del NP_000091.1:n.168+5_168+22del
NM_000100.4:c.168+5_168+22del MANE Select NP_000091.1:n.168+5_168+22del
Search 100 bp 5'
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