Canonical Allele Identifier: CA2681116687

Gene: PRKN

Linked Data

• gnomAD v4: 6-162443361-CTGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443362_162443365del , CM000668.2:g.162443362_162443365del	GRCh38
NC_000006.11:g.162864394_162864397del , CM000668.1:g.162864394_162864397del	GRCh37
NC_000006.10:g.162784384_162784387del	NCBI36
NG_008289.1:g.289438_289441del
NG_008289.2:g.289438_289441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.116_119del	ENSP00000343589.4:p.Asp39GlyfsTer4
ENST00000366894.6:c.116_119del	ENSP00000355860.2:p.Asp39GlyfsTer4
ENST00000366898.6:c.116_119del MANE Select	ENSP00000355865.1:p.Asp39GlyfsTer4
ENST00000648830.1:n.283_286del
ENST00000673871.1:c.111_114del
ENST00000674232.1:n.134_137del
ENST00000674259.1:n.173_176del
ENST00000674493.1:n.133_136del
ENST00000674501.1:n.223_226del
ENST00000338468.7:c.-336_-333del	ENSP00000343589.3:n.-336_-333del
ENST00000366892.5:c.116_119del	ENSP00000355858.1:p.Asp39GlyfsTer4
ENST00000366894.5:c.-217_-214del	ENSP00000355860.1:n.-217_-214del
ENST00000366896.5:c.116_119del	ENSP00000355862.1:p.Asp39GlyfsTer4
ENST00000366897.5:c.116_119del	ENSP00000355863.1:p.Asp39GlyfsTer4
ENST00000366898.5:c.116_119del	ENSP00000355865.1:p.Asp39GlyfsTer4
ENST00000479615.5:c.-66-180600_-66-180597del	ENSP00000434414.1:n.-66-180600_-66-180597del
NM_004562.2:c.116_119del	NP_004553.2:p.Asp39GlyfsTer4
NM_013987.2:c.116_119del	NP_054642.2:p.Asp39GlyfsTer4
NM_013988.2:c.116_119del	NP_054643.2:p.Asp39GlyfsTer4
XM_011535863.1:c.116_119del	XP_011534165.1:p.Asp39GlyfsTer4
XM_011535864.1:c.116_119del	XP_011534166.1:p.Asp39GlyfsTer4
XM_011535865.1:c.116_119del	XP_011534167.1:p.Asp39GlyfsTer4
XM_011535866.1:c.116_119del	XP_011534168.1:p.Asp39GlyfsTer4
XM_011535867.1:c.116_119del	XP_011534169.1:p.Asp39GlyfsTer4
XM_017010908.1:c.230_233del	XP_016866397.1:p.Asp77GlyfsTer4
XM_017010909.2:c.-66-180600_-66-180597del	XP_016866398.1:n.-66-180600_-66-180597del
XM_024446449.1:c.-66-180600_-66-180597del	XP_024302217.1:n.-66-180600_-66-180597del
XR_001743443.2:n.222_225del
NM_004562.3:c.116_119del MANE Select	NP_004553.2:p.Asp39GlyfsTer4
NM_013987.3:c.116_119del	NP_054642.2:p.Asp39GlyfsTer4
NM_013988.3:c.116_119del	NP_054643.2:p.Asp39GlyfsTer4