Canonical Allele Identifier: CA2681112636

Gene: PRKN

Linked Data

• gnomAD v4: 6-161350147-G-GCCGCGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350149_161350150insGCGGTTCC , CM000668.2:g.161350149_161350150insGCGGTTCC	GRCh38
NC_000006.11:g.161771181_161771182insGCGGTTCC , CM000668.1:g.161771181_161771182insGCGGTTCC	GRCh37
NC_000006.10:g.161691171_161691172insGCGGTTCC	NCBI36
NG_008289.1:g.1382655_1382656insAACCGCGG
NG_008289.2:g.1382655_1382656insAACCGCGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1227_1228insAACCGCGG	ENSP00000343589.4:n.1227_1228insAACCGCGG
ENST00000366894.6:c.1108_1109insAACCGCGG	ENSP00000355860.2:n.1108_1109insAACCGCGG
ENST00000366898.6:c.1349_1350insAACCGCGG MANE Select	ENSP00000355865.1:p.Cys451ThrfsTer?
ENST00000673871.1:c.1430_1431insAACCGCGG
ENST00000674006.1:n.734_735insAACCGCGG
ENST00000674436.1:n.985_986insAACCGCGG
ENST00000338468.7:c.776_777insAACCGCGG	ENSP00000343589.3:p.Cys260ThrfsTer?
ENST00000366894.5:c.776_777insAACCGCGG	ENSP00000355860.1:p.Cys260ThrfsTer?
ENST00000366896.5:c.902_903insAACCGCGG	ENSP00000355862.1:p.Cys302ThrfsTer?
ENST00000366897.5:c.1265_1266insAACCGCGG	ENSP00000355863.1:p.Cys423ThrfsTer?
ENST00000366898.5:c.1349_1350insAACCGCGG	ENSP00000355865.1:p.Cys451ThrfsTer?
ENST00000479615.5:c.*125_*126insAACCGCGG	ENSP00000434414.1:n.*125_*126insAACCGCGG
ENST00000610470.4:c.482_483insAACCGCGG	ENSP00000483773.1:p.Cys162ThrfsTer?
NM_004562.2:c.1349_1350insAACCGCGG	NP_004553.2:p.Cys451ThrfsTer?
NM_013987.2:c.1265_1266insAACCGCGG	NP_054642.2:p.Cys423ThrfsTer?
NM_013988.2:c.902_903insAACCGCGG	NP_054643.2:p.Cys302ThrfsTer?
XM_011535863.1:c.1346_1347insAACCGCGG	XP_011534165.1:p.Cys450ThrfsTer?
XM_017010908.1:c.1463_1464insAACCGCGG	XP_016866397.1:p.Cys489ThrfsTer?
XM_017010909.2:c.1109_1110insAACCGCGG	XP_016866398.1:p.Cys371ThrfsTer?
XM_024446449.1:c.1112_1113insAACCGCGG	XP_024302217.1:p.Cys372ThrfsTer?
XR_001743443.2:n.1541_1542insAACCGCGG
NM_004562.3:c.1349_1350insAACCGCGG MANE Select	NP_004553.2:p.Cys451ThrfsTer?
NM_013987.3:c.1265_1266insAACCGCGG	NP_054642.2:p.Cys423ThrfsTer?
NM_013988.3:c.902_903insAACCGCGG	NP_054643.2:p.Cys302ThrfsTer?