Canonical Allele Identifier: CA1152147996

Gene: PARK7

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985247_7985250delinsCTTG , CM000663.2:g.7985247_7985250delinsCTTG	GRCh38
NC_000001.10:g.8045307_8045310delinsCTTG , CM000663.1:g.8045307_8045310delinsCTTG	GRCh37
NC_000001.9:g.7967894_7967897delinsCTTG	NCBI36
NG_008271.1:g.28594_28597delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*193_*196delinsCTTG MANE Select	ENSP00000340278.5:n.*193_*196delinsCTTG
ENST00000338639.9:c.*193_*196delinsCTTG	ENSP00000340278.5:n.*193_*196delinsCTTG
ENST00000377491.5:c.*193_*196delinsCTTG	ENSP00000366711.1:n.*193_*196delinsCTTG
ENST00000377493.9:c.*193_*196delinsCTTG	ENSP00000466242.1:n.*193_*196delinsCTTG
ENST00000469225.1:c.676_679delinsCTTG	ENSP00000466756.1:n.676_679delinsCTTG
ENST00000493678.5:c.*193_*196delinsCTTG	ENSP00000418770.1:n.*193_*196delinsCTTG
NM_001123377.1:c.*193_*196delinsCTTG	NP_001116849.1:n.*193_*196delinsCTTG
NM_007262.4:c.*193_*196delinsCTTG	NP_009193.2:n.*193_*196delinsCTTG
XM_005263424.2:c.*193_*196delinsCTTG	XP_005263481.1:n.*193_*196delinsCTTG
XM_005263424.3:c.*193_*196delinsCTTG	XP_005263481.1:n.*193_*196delinsCTTG
NM_007262.5:c.*193_*196delinsCTTG MANE Select	NP_009193.2:n.*193_*196delinsCTTG
NM_001123377.2:c.*193_*196delinsCTTG	NP_001116849.1:n.*193_*196delinsCTTG