Canonical Allele Identifier: CA2517978625

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161785882_161785883insG , CM000668.2:g.161785882_161785883insG	GRCh38
NC_000006.11:g.162206914_162206915insG , CM000668.1:g.162206914_162206915insG	GRCh37
NC_000006.10:g.162126904_162126905insG	NCBI36
NG_008289.1:g.946920_946921insC
NG_008289.2:g.946920_946921insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.638_639insC	ENSP00000343589.4:n.638_639insC
ENST00000366894.6:c.519_520insC	ENSP00000355860.2:n.519_520insC
ENST00000366898.6:c.760_761insC MANE Select	ENSP00000355865.1:p.Asn254ThrfsTer21
ENST00000673871.1:c.755_756insC
ENST00000674006.1:n.145_146insC
ENST00000674436.1:n.396_397insC
ENST00000674501.1:n.867_868insC
ENST00000338468.7:c.187_188insC	ENSP00000343589.3:p.Asn63ThrfsTer21
ENST00000366892.5:c.760_761insC	ENSP00000355858.1:p.Asn254ThrfsTer21
ENST00000366894.5:c.187_188insC	ENSP00000355860.1:p.Asn63ThrfsTer21
ENST00000366896.5:c.313_314insC	ENSP00000355862.1:p.Asn105ThrfsTer21
ENST00000366897.5:c.676_677insC	ENSP00000355863.1:p.Asn226ThrfsTer21
ENST00000366898.5:c.760_761insC	ENSP00000355865.1:p.Asn254ThrfsTer21
ENST00000479615.5:c.523_524insC	ENSP00000434414.1:p.Asn175ThrfsTer21
NM_004562.2:c.760_761insC	NP_004553.2:p.Asn254ThrfsTer21
NM_013987.2:c.676_677insC	NP_054642.2:p.Asn226ThrfsTer21
NM_013988.2:c.313_314insC	NP_054643.2:p.Asn105ThrfsTer21
XM_011535863.1:c.757_758insC	XP_011534165.1:p.Asn253ThrfsTer21
XM_011535864.1:c.760_761insC	XP_011534166.1:p.Asn254ThrfsTer21
XM_011535865.1:c.760_761insC	XP_011534167.1:p.Asn254ThrfsTer21
XM_017010908.1:c.874_875insC	XP_016866397.1:p.Asn292ThrfsTer21
XM_017010909.2:c.520_521insC	XP_016866398.1:p.Asn174ThrfsTer21
XM_024446449.1:c.523_524insC	XP_024302217.1:p.Asn175ThrfsTer21
XR_001743443.2:n.866_867insC
NM_004562.3:c.760_761insC MANE Select	NP_004553.2:p.Asn254ThrfsTer21
NM_013987.3:c.676_677insC	NP_054642.2:p.Asn226ThrfsTer21
NM_013988.3:c.313_314insC	NP_054643.2:p.Asn105ThrfsTer21