Canonical Allele Identifier: CA2574198760

Gene: PARK7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984945del , CM000663.2:g.7984945del	GRCh38
NC_000001.10:g.8045005del , CM000663.1:g.8045005del	GRCh37
NC_000001.9:g.7967592del	NCBI36
NG_008271.1:g.28292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.461del MANE Select	ENSP00000340278.5:p.Thr154LysfsTer19
ENST00000338639.9:c.461del	ENSP00000340278.5:p.Thr154LysfsTer19
ENST00000377488.5:c.461del	ENSP00000366708.1:p.Thr154LysfsTer19
ENST00000377491.5:c.461del	ENSP00000366711.1:p.Thr154LysfsTer19
ENST00000377493.9:c.401del	ENSP00000466242.1:p.Thr134LysfsTer19
ENST00000469225.1:c.374del	ENSP00000466756.1:p.Thr125LysfsTer19
ENST00000493373.5:c.461del	ENSP00000465404.1:p.Thr154LysfsTer19
ENST00000493678.5:c.461del	ENSP00000418770.1:p.Thr154LysfsTer19
NM_001123377.1:c.461del	NP_001116849.1:p.Thr154LysfsTer19
NM_007262.4:c.461del	NP_009193.2:p.Thr154LysfsTer19
XM_005263424.2:c.461del	XP_005263481.1:p.Thr154LysfsTer19
XM_005263424.3:c.461del	XP_005263481.1:p.Thr154LysfsTer19
NM_007262.5:c.461del MANE Select	NP_009193.2:p.Thr154LysfsTer19
NM_001123377.2:c.461del	NP_001116849.1:p.Thr154LysfsTer19