Canonical Allele Identifier: CA2681116688

Gene: PRKN

Linked Data

• gnomAD v4: 6-162443367-AGCCGGAACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443368_162443377del , CM000668.2:g.162443368_162443377del	GRCh38
NC_000006.11:g.162864400_162864409del , CM000668.1:g.162864400_162864409del	GRCh37
NC_000006.10:g.162784390_162784399del	NCBI36
NG_008289.1:g.289426_289435del
NG_008289.2:g.289426_289435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.104_113del	ENSP00000343589.4:p.Gly35ValfsTer6
ENST00000366894.6:c.104_113del	ENSP00000355860.2:p.Gly35ValfsTer6
ENST00000366898.6:c.104_113del MANE Select	ENSP00000355865.1:p.Gly35ValfsTer6
ENST00000648830.1:n.271_280del
ENST00000673871.1:c.99_108del
ENST00000674232.1:n.122_131del
ENST00000674259.1:n.161_170del
ENST00000674493.1:n.121_130del
ENST00000674501.1:n.211_220del
ENST00000338468.7:c.-348_-339del	ENSP00000343589.3:n.-348_-339del
ENST00000366892.5:c.104_113del	ENSP00000355858.1:p.Gly35ValfsTer6
ENST00000366894.5:c.-229_-220del	ENSP00000355860.1:n.-229_-220del
ENST00000366896.5:c.104_113del	ENSP00000355862.1:p.Gly35ValfsTer6
ENST00000366897.5:c.104_113del	ENSP00000355863.1:p.Gly35ValfsTer6
ENST00000366898.5:c.104_113del	ENSP00000355865.1:p.Gly35ValfsTer6
ENST00000479615.5:c.-66-180612_-66-180603del	ENSP00000434414.1:n.-66-180612_-66-180603del
NM_004562.2:c.104_113del	NP_004553.2:p.Gly35ValfsTer6
NM_013987.2:c.104_113del	NP_054642.2:p.Gly35ValfsTer6
NM_013988.2:c.104_113del	NP_054643.2:p.Gly35ValfsTer6
XM_011535863.1:c.104_113del	XP_011534165.1:p.Gly35ValfsTer6
XM_011535864.1:c.104_113del	XP_011534166.1:p.Gly35ValfsTer6
XM_011535865.1:c.104_113del	XP_011534167.1:p.Gly35ValfsTer6
XM_011535866.1:c.104_113del	XP_011534168.1:p.Gly35ValfsTer6
XM_011535867.1:c.104_113del	XP_011534169.1:p.Gly35ValfsTer6
XM_017010908.1:c.218_227del	XP_016866397.1:p.Gly73ValfsTer6
XM_017010909.2:c.-66-180612_-66-180603del	XP_016866398.1:n.-66-180612_-66-180603del
XM_024446449.1:c.-66-180612_-66-180603del	XP_024302217.1:n.-66-180612_-66-180603del
XR_001743443.2:n.210_219del
NM_004562.3:c.104_113del MANE Select	NP_004553.2:p.Gly35ValfsTer6
NM_013987.3:c.104_113del	NP_054642.2:p.Gly35ValfsTer6
NM_013988.3:c.104_113del	NP_054643.2:p.Gly35ValfsTer6