Canonical Allele Identifier: CA2643056874

Gene: PARK7

Linked Data

• gnomAD v4: 1-7984998-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7984999del , CM000663.2:g.7984999del	GRCh38
NC_000001.10:g.8045059del , CM000663.1:g.8045059del	GRCh37
NC_000001.9:g.7967646del	NCBI36
NG_008271.1:g.28346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.515del MANE Select	ENSP00000340278.5:p.Leu172ArgfsTer10
ENST00000338639.9:c.515del	ENSP00000340278.5:p.Leu172ArgfsTer10
ENST00000377488.5:c.515del	ENSP00000366708.1:p.Leu172ArgfsTer10
ENST00000377491.5:c.515del	ENSP00000366711.1:p.Leu172ArgfsTer10
ENST00000377493.9:c.455del	ENSP00000466242.1:p.Leu152ArgfsTer10
ENST00000469225.1:c.428del	ENSP00000466756.1:p.Leu143ArgfsTer10
ENST00000493373.5:c.515del	ENSP00000465404.1:p.Leu172ArgfsTer10
ENST00000493678.5:c.515del	ENSP00000418770.1:p.Leu172ArgfsTer10
NM_001123377.1:c.515del	NP_001116849.1:p.Leu172ArgfsTer10
NM_007262.4:c.515del	NP_009193.2:p.Leu172ArgfsTer10
XM_005263424.2:c.515del	XP_005263481.1:p.Leu172ArgfsTer10
XM_005263424.3:c.515del	XP_005263481.1:p.Leu172ArgfsTer10
NM_007262.5:c.515del MANE Select	NP_009193.2:p.Leu172ArgfsTer10
NM_001123377.2:c.515del	NP_001116849.1:p.Leu172ArgfsTer10