Canonical Allele Identifier: CA2683719189

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506371-TCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506372_92506375del , CM000669.2:g.92506372_92506375del	GRCh38
NC_000007.13:g.92135686_92135689del , CM000669.1:g.92135686_92135689del	GRCh37
NC_000007.12:g.91973622_91973625del	NCBI36
NG_008341.1:g.27157_27160del
NG_008341.2:g.27157_27160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-31_1804-28del MANE Select	ENSP00000248633.4:n.1804-31_1804-28del
ENST00000248633.8:c.1804-31_1804-28del	ENSP00000248633.4:n.1804-31_1804-28del
ENST00000422866.1:c.622-31_622-28del
ENST00000428214.5:c.1804-31_1804-28del	ENSP00000394413.1:n.1804-31_1804-28del
ENST00000438045.5:c.838-31_838-28del	ENSP00000410438.1:n.838-31_838-28del
ENST00000484913.5:n.1843-31_1843-28del
ENST00000496420.5:n.1449_1452del
NM_000466.2:c.1804-31_1804-28del	NP_000457.1:n.1804-31_1804-28del
NM_001282677.1:c.1804-31_1804-28del	NP_001269606.1:n.1804-31_1804-28del
NM_001282678.1:c.1180-31_1180-28del	NP_001269607.1:n.1180-31_1180-28del
XM_005250433.3:c.55-31_55-28del	XP_005250490.1:n.55-31_55-28del
XR_242246.3:n.1900-31_1900-28del
XM_017012319.2:c.55-31_55-28del	XP_016867808.1:n.55-31_55-28del
XR_001744808.2:n.831-31_831-28del
XR_242246.5:n.1851-31_1851-28del
NM_000466.3:c.1804-31_1804-28del MANE Select	NP_000457.1:n.1804-31_1804-28del
NM_001282677.2:c.1804-31_1804-28del	NP_001269606.1:n.1804-31_1804-28del
NM_001282678.2:c.1180-31_1180-28del	NP_001269607.1:n.1180-31_1180-28del