Canonical Allele Identifier: CA658846494
Gene: CPN1 HGNC NCBI

Linked Data

dbSNP Id: rs1276134158
gnomAD v3: 10-100045739-GT-G
gnomAD v4: 10-100045739-GT-G
MyVariant Identifiers: chr10:g.101805497del (hg19) chr10:g.100045740del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045741del , CM000672.2:g.100045741del GRCh38
NC_000010.10:g.101805498del , CM000672.1:g.101805498del GRCh37
NC_000010.9:g.101795488del NCBI36
NG_012060.1:g.41146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370418.8:c.1230+3018del MANE Select ENSP00000359446.3:n.1230+3018del
ENST00000370418.7:c.1230+3018del ENSP00000359446.3:n.1230+3018del
NM_001308.2:c.1230+3018del NP_001299.1:n.1230+3018del
XM_011539299.1:c.1272+3018del XP_011537601.1:n.1272+3018del
NM_001308.3:c.1230+3018del MANE Select NP_001299.1:n.1230+3018del
Search 100 bp 5'
Search 100 bp 3'