Canonical Allele Identifier: CA1725941812

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506863_92506865delinsCAT , CM000669.2:g.92506863_92506865delinsCAT	GRCh38
NC_000007.13:g.92136177_92136179delinsCAT , CM000669.1:g.92136177_92136179delinsCAT	GRCh37
NC_000007.12:g.91974113_91974115delinsCAT	NCBI36
NG_008341.1:g.26667_26669delinsATG
NG_008341.2:g.26667_26669delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1803+129_1803+131delinsATG MANE Select	ENSP00000248633.4:n.1803+129_1803+131delinsATG
ENST00000248633.8:c.1803+129_1803+131delinsATG	ENSP00000248633.4:n.1803+129_1803+131delinsATG
ENST00000422866.1:c.621+129_621+131delinsATG
ENST00000428214.5:c.1803+129_1803+131delinsATG	ENSP00000394413.1:n.1803+129_1803+131delinsATG
ENST00000438045.5:c.837+129_837+131delinsATG	ENSP00000410438.1:n.837+129_837+131delinsATG
ENST00000484913.5:n.1842+129_1842+131delinsATG
ENST00000496420.5:n.959_961delinsATG
NM_000466.2:c.1803+129_1803+131delinsATG	NP_000457.1:n.1803+129_1803+131delinsATG
NM_001282677.1:c.1803+129_1803+131delinsATG	NP_001269606.1:n.1803+129_1803+131delinsATG
NM_001282678.1:c.1179+129_1179+131delinsATG	NP_001269607.1:n.1179+129_1179+131delinsATG
XM_005250433.3:c.54+129_54+131delinsATG	XP_005250490.1:n.54+129_54+131delinsATG
XR_242246.3:n.1899+129_1899+131delinsATG
XM_017012319.2:c.54+129_54+131delinsATG	XP_016867808.1:n.54+129_54+131delinsATG
XR_001744808.2:n.830+129_830+131delinsATG
XR_242246.5:n.1850+129_1850+131delinsATG
NM_000466.3:c.1803+129_1803+131delinsATG MANE Select	NP_000457.1:n.1803+129_1803+131delinsATG
NM_001282677.2:c.1803+129_1803+131delinsATG	NP_001269606.1:n.1803+129_1803+131delinsATG
NM_001282678.2:c.1179+129_1179+131delinsATG	NP_001269607.1:n.1179+129_1179+131delinsATG