Canonical Allele Identifier: CA2570783345
Gene: CPN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045676_100045677insTTCTGCTT , CM000672.2:g.100045676_100045677insTTCTGCTT GRCh38
NC_000010.10:g.101805433_101805434insTTCTGCTT , CM000672.1:g.101805433_101805434insTTCTGCTT GRCh37
NC_000010.9:g.101795423_101795424insTTCTGCTT NCBI36
NG_012060.1:g.41209_41210insAAGCAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370418.8:c.1230+3081_1230+3082insAAGCAGAA MANE Select ENSP00000359446.3:n.1230+3081_1230+3082insAAGCAGAA
ENST00000370418.7:c.1230+3081_1230+3082insAAGCAGAA ENSP00000359446.3:n.1230+3081_1230+3082insAAGCAGAA
NM_001308.2:c.1230+3081_1230+3082insAAGCAGAA NP_001299.1:n.1230+3081_1230+3082insAAGCAGAA
XM_011539299.1:c.1272+3081_1272+3082insAAGCAGAA XP_011537601.1:n.1272+3081_1272+3082insAAGCAGAA
NM_001308.3:c.1230+3081_1230+3082insAAGCAGAA MANE Select NP_001299.1:n.1230+3081_1230+3082insAAGCAGAA
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