Canonical Allele Identifier: CA16041018
Gene: PEX7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371420
ClinVar RCV Id: RCV000409579
dbSNP Id: rs1057517257

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136869992_136870020del , CM000668.2:g.136869992_136870020del GRCh38
NC_000006.11:g.137191130_137191158del , CM000668.1:g.137191130_137191158del GRCh37
NC_000006.10:g.137232823_137232851del NCBI36
NG_008462.1:g.52413_52441del

Transcript Alleles

HGVS Amino-acid change
NM_000288.3:c.736_747+17del VV
XM_005267019.3:c.622_633+17del
XM_006715502.1:c.442_453+17del
XM_011535900.1:c.526+23811_526+23839del XP_011534202.1:p.=
XM_005267019.4:c.622_633+17del
XM_006715502.2:c.442_453+17del
XM_017010934.2:c.526+23811_526+23839del XP_016866423.1:p.=
ENST00000318471.4:c.736_747+17del
ENST00000541292.5:c.736_747+17del