Canonical Allele Identifier: CA1725941463

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506464_92506469delinsAAGAAG , CM000669.2:g.92506464_92506469delinsAAGAAG	GRCh38
NC_000007.13:g.92135778_92135783delinsAAGAAG , CM000669.1:g.92135778_92135783delinsAAGAAG	GRCh37
NC_000007.12:g.91973714_91973719delinsAAGAAG	NCBI36
NG_008341.1:g.27063_27068delinsCTTCTT
NG_008341.2:g.27063_27068delinsCTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-125_1804-120delinsCTTCTT MANE Select	ENSP00000248633.4:n.1804-125_1804-120delinsCTTCTT
ENST00000248633.8:c.1804-125_1804-120delinsCTTCTT	ENSP00000248633.4:n.1804-125_1804-120delinsCTTCTT
ENST00000422866.1:c.622-125_622-120delinsCTTCTT
ENST00000428214.5:c.1804-125_1804-120delinsCTTCTT	ENSP00000394413.1:n.1804-125_1804-120delinsCTTCTT
ENST00000438045.5:c.838-125_838-120delinsCTTCTT	ENSP00000410438.1:n.838-125_838-120delinsCTTCTT
ENST00000484913.5:n.1843-125_1843-120delinsCTTCTT
ENST00000496420.5:n.1355_1360delinsCTTCTT
NM_000466.2:c.1804-125_1804-120delinsCTTCTT	NP_000457.1:n.1804-125_1804-120delinsCTTCTT
NM_001282677.1:c.1804-125_1804-120delinsCTTCTT	NP_001269606.1:n.1804-125_1804-120delinsCTTCTT
NM_001282678.1:c.1180-125_1180-120delinsCTTCTT	NP_001269607.1:n.1180-125_1180-120delinsCTTCTT
XM_005250433.3:c.55-125_55-120delinsCTTCTT	XP_005250490.1:n.55-125_55-120delinsCTTCTT
XR_242246.3:n.1900-125_1900-120delinsCTTCTT
XM_017012319.2:c.55-125_55-120delinsCTTCTT	XP_016867808.1:n.55-125_55-120delinsCTTCTT
XR_001744808.2:n.831-125_831-120delinsCTTCTT
XR_242246.5:n.1851-125_1851-120delinsCTTCTT
NM_000466.3:c.1804-125_1804-120delinsCTTCTT MANE Select	NP_000457.1:n.1804-125_1804-120delinsCTTCTT
NM_001282677.2:c.1804-125_1804-120delinsCTTCTT	NP_001269606.1:n.1804-125_1804-120delinsCTTCTT
NM_001282678.2:c.1180-125_1180-120delinsCTTCTT	NP_001269607.1:n.1180-125_1180-120delinsCTTCTT