Canonical Allele Identifier: CA2538930954
Gene: CPN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100045626_100045627insAAATTTTAAATTAGTTATCAACTCTTCTAAGGATT , CM000672.2:g.100045626_100045627insAAATTTTAAATTAGTTATCAACTCTTCTAAGGATT GRCh38
NC_000010.10:g.101805383_101805384insAAATTTTAAATTAGTTATCAACTCTTCTAAGGATT , CM000672.1:g.101805383_101805384insAAATTTTAAATTAGTTATCAACTCTTCTAAGGATT GRCh37
NC_000010.9:g.101795373_101795374insAAATTTTAAATTAGTTATCAACTCTTCTAAGGATT NCBI36
NG_012060.1:g.41259_41260insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT

Transcript Alleles

HGVS Amino-acid change
ENST00000370418.8:c.1231-3054_1231-3053insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT MANE Select ENSP00000359446.3:n.1231-3054_1231-3053in...
ENST00000370418.7:c.1231-3054_1231-3053insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT ENSP00000359446.3:n.1231-3054_1231-3053in...
NM_001308.2:c.1231-3054_1231-3053insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT NP_001299.1:n.1231-3054_1231-3053insAATCC...
XM_011539299.1:c.1273-3054_1273-3053insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT XP_011537601.1:n.1273-3054_1273-3053insAA...
NM_001308.3:c.1231-3054_1231-3053insAATCCTTAGAAGAGTTGATAACTAATTTAAAATTT MANE Select NP_001299.1:n.1231-3054_1231-3053insAATCC...