Canonical Allele Identifier: CA10048869
Gene: CSTB HGNC NCBI

Linked Data

dbSNP Id: rs1491180684
ExAC: 21:45194161 G / GA
gnomAD v2: 21-45194161-G-GA
gnomAD v3: 21-43774280-G-GA
gnomAD v4: 21-43774280-G-GA
MyVariant Identifiers: chr21:g.45194161_45194162insA (hg19) chr21:g.43774280_43774281insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774281dup , CM000683.2:g.43774281dup GRCh38
NC_000021.8:g.45194162dup , CM000683.1:g.45194162dup GRCh37
NC_000021.7:g.44018590dup NCBI36
NG_011545.1:g.7098dup , LRG_485:g.7098dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.218dup MANE Select ENSP00000291568.6:p.His75SerfsTer2
ENST00000480147.3:n.1988dup
ENST00000639959.1:c.85dup
ENST00000640406.1:c.*293dup ENSP00000492672.1:n.*293dup
ENST00000675996.1:n.643dup
ENST00000291568.5:c.218dup ENSP00000291568.5:p.His75SerfsTer2
ENST00000480147.1:n.582dup
NM_000100.3:c.218dup , LRG_485t1:c.218dup NP_000091.1:p.His75SerfsTer2
NM_000100.4:c.218dup MANE Select NP_000091.1:p.His75SerfsTer2
Search 100 bp 5'
Search 100 bp 3'