Canonical Allele Identifier: CA2776946748

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506409_92506410insACAT , CM000669.2:g.92506409_92506410insACAT	GRCh38
NC_000007.13:g.92135723_92135724insACAT , CM000669.1:g.92135723_92135724insACAT	GRCh37
NC_000007.12:g.91973659_91973660insACAT	NCBI36
NG_008341.1:g.27122_27123insATGT
NG_008341.2:g.27122_27123insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-66_1804-65insATGT MANE Select	ENSP00000248633.4:n.1804-66_1804-65insATGT
ENST00000248633.8:c.1804-66_1804-65insATGT	ENSP00000248633.4:n.1804-66_1804-65insATGT
ENST00000422866.1:c.622-66_622-65insATGT
ENST00000428214.5:c.1804-66_1804-65insATGT	ENSP00000394413.1:n.1804-66_1804-65insATGT
ENST00000438045.5:c.838-66_838-65insATGT	ENSP00000410438.1:n.838-66_838-65insATGT
ENST00000484913.5:n.1843-66_1843-65insATGT
ENST00000496420.5:n.1414_1415insATGT
NM_000466.2:c.1804-66_1804-65insATGT	NP_000457.1:n.1804-66_1804-65insATGT
NM_001282677.1:c.1804-66_1804-65insATGT	NP_001269606.1:n.1804-66_1804-65insATGT
NM_001282678.1:c.1180-66_1180-65insATGT	NP_001269607.1:n.1180-66_1180-65insATGT
XM_005250433.3:c.55-66_55-65insATGT	XP_005250490.1:n.55-66_55-65insATGT
XR_242246.3:n.1900-66_1900-65insATGT
XM_017012319.2:c.55-66_55-65insATGT	XP_016867808.1:n.55-66_55-65insATGT
XR_001744808.2:n.831-66_831-65insATGT
XR_242246.5:n.1851-66_1851-65insATGT
NM_000466.3:c.1804-66_1804-65insATGT MANE Select	NP_000457.1:n.1804-66_1804-65insATGT
NM_001282677.2:c.1804-66_1804-65insATGT	NP_001269606.1:n.1804-66_1804-65insATGT
NM_001282678.2:c.1180-66_1180-65insATGT	NP_001269607.1:n.1180-66_1180-65insATGT