Canonical Allele Identifier: CA1725947119

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517217_92517218delinsTA , CM000669.2:g.92517217_92517218delinsTA	GRCh38
NC_000007.13:g.92146531_92146532delinsTA , CM000669.1:g.92146531_92146532delinsTA	GRCh37
NC_000007.12:g.91984467_91984468delinsTA	NCBI36
NG_008341.1:g.16314_16315delinsTA
NG_008341.2:g.16314_16315delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+58_1239+59delinsTA MANE Select	ENSP00000248633.4:n.1239+58_1239+59delinsTA
ENST00000248633.8:c.1239+58_1239+59delinsTA	ENSP00000248633.4:n.1239+58_1239+59delinsTA
ENST00000422866.1:c.140+58_140+59delinsTA
ENST00000428214.5:c.1239+58_1239+59delinsTA	ENSP00000394413.1:n.1239+58_1239+59delinsTA
ENST00000438045.5:c.274-3251_274-3250delinsTA	ENSP00000410438.1:n.274-3251_274-3250delinsTA
ENST00000484913.5:n.1278+58_1278+59delinsTA
NM_000466.2:c.1239+58_1239+59delinsTA	NP_000457.1:n.1239+58_1239+59delinsTA
NM_001282677.1:c.1239+58_1239+59delinsTA	NP_001269606.1:n.1239+58_1239+59delinsTA
NM_001282678.1:c.615+58_615+59delinsTA	NP_001269607.1:n.615+58_615+59delinsTA
XR_242246.3:n.1335+58_1335+59delinsTA
XM_017012319.2:c.-428+58_-428+59delinsTA	XP_016867808.1:n.-428+58_-428+59delinsTA
XR_001744808.2:n.349+58_349+59delinsTA
XR_242246.5:n.1286+58_1286+59delinsTA
NM_000466.3:c.1239+58_1239+59delinsTA MANE Select	NP_000457.1:n.1239+58_1239+59delinsTA
NM_001282677.2:c.1239+58_1239+59delinsTA	NP_001269606.1:n.1239+58_1239+59delinsTA
NM_001282678.2:c.615+58_615+59delinsTA	NP_001269607.1:n.615+58_615+59delinsTA