Canonical Allele Identifier: CA913127956

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126049_92126050del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496735_92496736del , CM000669.2:g.92496735_92496736del	GRCh38
NC_000007.13:g.92126049_92126050del , CM000669.1:g.92126049_92126050del	GRCh37
NC_000007.12:g.91963985_91963986del	NCBI36
NG_008341.1:g.36796_36797del
NG_008341.2:g.36796_36797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2760_2761del MANE Select	ENSP00000248633.4:p.Gln920HisfsTer8
ENST00000248633.8:c.2760_2761del	ENSP00000248633.4:p.Gln920HisfsTer8
ENST00000428214.5:c.2589_2590del	ENSP00000394413.1:p.Gln863HisfsTer8
ENST00000438045.5:c.1794_1795del	ENSP00000410438.1:p.Gln598HisfsTer8
ENST00000484913.5:n.2799_2800del
ENST00000496420.5:n.2652_2653del
NM_000466.2:c.2760_2761del	NP_000457.1:p.Gln920HisfsTer8
NM_001282677.1:c.2589_2590del	NP_001269606.1:p.Gln863HisfsTer8
NM_001282678.1:c.2136_2137del	NP_001269607.1:p.Gln712HisfsTer8
XM_005250433.3:c.1011_1012del	XP_005250490.1:p.Gln337HisfsTer8
XR_242246.3:n.2856_2857del
XM_017012319.2:c.1011_1012del	XP_016867808.1:p.Gln337HisfsTer8
XR_001744808.2:n.1787_1788del
XR_242246.5:n.2807_2808del
NM_000466.3:c.2760_2761del MANE Select	NP_000457.1:p.Gln920HisfsTer8
NM_001282677.2:c.2589_2590del	NP_001269606.1:p.Gln863HisfsTer8
NM_001282678.2:c.2136_2137del	NP_001269607.1:p.Gln712HisfsTer8