Canonical Allele Identifier: CA2789204972
Gene: CPN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045703del , CM000672.2:g.100045703del GRCh38
NC_000010.10:g.101805460del , CM000672.1:g.101805460del GRCh37
NC_000010.9:g.101795450del NCBI36
NG_012060.1:g.41184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370418.8:c.1230+3056del MANE Select ENSP00000359446.3:n.1230+3056del
ENST00000370418.7:c.1230+3056del ENSP00000359446.3:n.1230+3056del
NM_001308.2:c.1230+3056del NP_001299.1:n.1230+3056del
XM_011539299.1:c.1272+3056del XP_011537601.1:n.1272+3056del
NM_001308.3:c.1230+3056del MANE Select NP_001299.1:n.1230+3056del