Canonical Allele Identifier: CA2643056960

Gene: PARK7

Linked Data

• gnomAD v4: 1-7985226-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7985227del , CM000663.2:g.7985227del	GRCh38
NC_000001.10:g.8045287del , CM000663.1:g.8045287del	GRCh37
NC_000001.9:g.7967874del	NCBI36
NG_008271.1:g.28574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338639.10:c.*173del MANE Select	ENSP00000340278.5:n.*173del
ENST00000338639.9:c.*173del	ENSP00000340278.5:n.*173del
ENST00000377491.5:c.*173del	ENSP00000366711.1:n.*173del
ENST00000377493.9:c.*173del	ENSP00000466242.1:n.*173del
ENST00000469225.1:c.656del	ENSP00000466756.1:n.656del
ENST00000493678.5:c.*173del	ENSP00000418770.1:n.*173del
NM_001123377.1:c.*173del	NP_001116849.1:n.*173del
NM_007262.4:c.*173del	NP_009193.2:n.*173del
XM_005263424.2:c.*173del	XP_005263481.1:n.*173del
XM_005263424.3:c.*173del	XP_005263481.1:n.*173del
NM_007262.5:c.*173del MANE Select	NP_009193.2:n.*173del
NM_001123377.2:c.*173del	NP_001116849.1:n.*173del