Canonical Allele Identifier: CA212878539
Gene: CPN1 HGNC NCBI

Linked Data

dbSNP Id: rs541668888
gnomAD v2: 10-101805492-GGTT-G
gnomAD v3: 10-100045735-GGTT-G
gnomAD v4: 10-100045735-GGTT-G
MyVariant Identifiers: chr10:g.101805493_101805495del (hg19) chr10:g.100045736_100045738del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045741_100045743del , CM000672.2:g.100045741_100045743del GRCh38
NC_000010.10:g.101805498_101805500del , CM000672.1:g.101805498_101805500del GRCh37
NC_000010.9:g.101795488_101795490del NCBI36
NG_012060.1:g.41148_41150del

Transcript Alleles

HGVS Amino-acid change
ENST00000370418.8:c.1230+3020_1230+3022del MANE Select ENSP00000359446.3:n.1230+3020_1230+3022de...
ENST00000370418.7:c.1230+3020_1230+3022del ENSP00000359446.3:n.1230+3020_1230+3022de...
NM_001308.2:c.1230+3020_1230+3022del NP_001299.1:n.1230+3020_1230+3022del
XM_011539299.1:c.1272+3020_1272+3022del XP_011537601.1:n.1272+3020_1272+3022del
NM_001308.3:c.1230+3020_1230+3022del MANE Select NP_001299.1:n.1230+3020_1230+3022del
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