Canonical Allele Identifier: CA2507044524

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443386_162443390del , CM000668.2:g.162443386_162443390del	GRCh38
NC_000006.11:g.162864418_162864422del , CM000668.1:g.162864418_162864422del	GRCh37
NC_000006.10:g.162784408_162784412del	NCBI36
NG_008289.1:g.289415_289419del
NG_008289.2:g.289415_289419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.93_97del	ENSP00000343589.4:p.Lys32ThrfsTer6
ENST00000366894.6:c.93_97del	ENSP00000355860.2:p.Lys32ThrfsTer6
ENST00000366898.6:c.93_97del MANE Select	ENSP00000355865.1:p.Lys32ThrfsTer6
ENST00000648830.1:n.260_264del
ENST00000673871.1:c.88_92del
ENST00000674232.1:n.111_115del
ENST00000674259.1:n.150_154del
ENST00000674493.1:n.110_114del
ENST00000674501.1:n.200_204del
ENST00000338468.7:c.-359_-355del	ENSP00000343589.3:n.-359_-355del
ENST00000366892.5:c.93_97del	ENSP00000355858.1:p.Lys32ThrfsTer6
ENST00000366894.5:c.-240_-236del	ENSP00000355860.1:n.-240_-236del
ENST00000366896.5:c.93_97del	ENSP00000355862.1:p.Lys32ThrfsTer6
ENST00000366897.5:c.93_97del	ENSP00000355863.1:p.Lys32ThrfsTer6
ENST00000366898.5:c.93_97del	ENSP00000355865.1:p.Lys32ThrfsTer6
ENST00000479615.5:c.-66-180623_-66-180619del	ENSP00000434414.1:n.-66-180623_-66-180619del
NM_004562.2:c.93_97del	NP_004553.2:p.Lys32ThrfsTer6
NM_013987.2:c.93_97del	NP_054642.2:p.Lys32ThrfsTer6
NM_013988.2:c.93_97del	NP_054643.2:p.Lys32ThrfsTer6
XM_011535863.1:c.93_97del	XP_011534165.1:p.Lys32ThrfsTer6
XM_011535864.1:c.93_97del	XP_011534166.1:p.Lys32ThrfsTer6
XM_011535865.1:c.93_97del	XP_011534167.1:p.Lys32ThrfsTer6
XM_011535866.1:c.93_97del	XP_011534168.1:p.Lys32ThrfsTer6
XM_011535867.1:c.93_97del	XP_011534169.1:p.Lys32ThrfsTer6
XM_017010908.1:c.207_211del	XP_016866397.1:p.Lys70ThrfsTer6
XM_017010909.2:c.-66-180623_-66-180619del	XP_016866398.1:n.-66-180623_-66-180619del
XM_024446449.1:c.-66-180623_-66-180619del	XP_024302217.1:n.-66-180623_-66-180619del
XR_001743443.2:n.199_203del
NM_004562.3:c.93_97del MANE Select	NP_004553.2:p.Lys32ThrfsTer6
NM_013987.3:c.93_97del	NP_054642.2:p.Lys32ThrfsTer6
NM_013988.3:c.93_97del	NP_054643.2:p.Lys32ThrfsTer6