Canonical Allele Identifier: CA10623053
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 355541
ClinVar RCV Id: RCV000274648 RCV000355428
dbSNP Id: rs886061123
gnomAD v2: 6-137234963-GTTATAC-G
gnomAD v3: 6-136913825-GTTATAC-G
gnomAD v4: 6-136913825-GTTATAC-G
MyVariant Identifiers: chr6:g.137234969_137234974del (hg19) chr6:g.137234964_137234969del (hg19) chr6:g.136913831_136913836del (hg38) chr6:g.136913826_136913831del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136913831_136913836del , CM000668.2:g.136913831_136913836del GRCh38
NC_000006.11:g.137234969_137234974del , CM000668.1:g.137234969_137234974del GRCh37
NC_000006.10:g.137276662_137276667del NCBI36
NG_008462.1:g.96252_96257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.*305_*310del MANE Select ENSP00000315680.3:n.*305_*310del
ENST00000678557.1:c.*305_*310del ENSP00000502962.1:n.*305_*310del
ENST00000679286.1:c.*305_*310del ENSP00000503168.1:n.*305_*310del
ENST00000318471.4:c.*305_*310del ENSP00000315680.3:n.*305_*310del
NM_000288.3:c.*305_*310del NP_000279.1:n.*305_*310del
XM_005267019.3:c.*305_*310del XP_005267076.1:n.*305_*310del
XM_006715502.1:c.*305_*310del XP_006715565.1:n.*305_*310del
XM_005267019.4:c.*305_*310del XP_005267076.1:n.*305_*310del
XM_006715502.2:c.*305_*310del XP_006715565.1:n.*305_*310del
XM_017010934.2:c.*400_*405del XP_016866423.1:n.*400_*405del
NM_000288.4:c.*305_*310del MANE Select NP_000279.1:n.*305_*310del
Search 100 bp 5'
Search 100 bp 3'