Canonical Allele Identifier: CA2578938188

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517241-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517245del , CM000669.2:g.92517245del	GRCh38
NC_000007.13:g.92146559del , CM000669.1:g.92146559del	GRCh37
NC_000007.12:g.91984495del	NCBI36
NG_008341.1:g.16290del
NG_008341.2:g.16290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+34del MANE Select	ENSP00000248633.4:n.1239+34del
ENST00000248633.8:c.1239+34del	ENSP00000248633.4:n.1239+34del
ENST00000422866.1:c.140+34del
ENST00000428214.5:c.1239+34del	ENSP00000394413.1:n.1239+34del
ENST00000438045.5:c.274-3275del	ENSP00000410438.1:n.274-3275del
ENST00000484913.5:n.1278+34del
NM_000466.2:c.1239+34del	NP_000457.1:n.1239+34del
NM_001282677.1:c.1239+34del	NP_001269606.1:n.1239+34del
NM_001282678.1:c.615+34del	NP_001269607.1:n.615+34del
XR_242246.3:n.1335+34del
XM_017012319.2:c.-428+34del	XP_016867808.1:n.-428+34del
XR_001744808.2:n.349+34del
XR_242246.5:n.1286+34del
NM_000466.3:c.1239+34del MANE Select	NP_000457.1:n.1239+34del
NM_001282677.2:c.1239+34del	NP_001269606.1:n.1239+34del
NM_001282678.2:c.615+34del	NP_001269607.1:n.615+34del