Canonical Allele Identifier: CA1725933148

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496503_92496507delinsAAAAC , CM000669.2:g.92496503_92496507delinsAAAAC	GRCh38
NC_000007.13:g.92125817_92125821delinsAAAAC , CM000669.1:g.92125817_92125821delinsAAAAC	GRCh37
NC_000007.12:g.91963753_91963757delinsAAAAC	NCBI36
NG_008341.1:g.37025_37029delinsGTTTT
NG_008341.2:g.37025_37029delinsGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+206_2783+210delinsGTTTT MANE Select	ENSP00000248633.4:n.2783+206_2783+210delinsGTTTT
ENST00000248633.8:c.2783+206_2783+210delinsGTTTT	ENSP00000248633.4:n.2783+206_2783+210delinsGTTTT
ENST00000428214.5:c.2612+206_2612+210delinsGTTTT	ENSP00000394413.1:n.2612+206_2612+210delinsGTTTT
ENST00000438045.5:c.1817+206_1817+210delinsGTTTT	ENSP00000410438.1:n.1817+206_1817+210delinsGTTTT
ENST00000484913.5:n.2822+206_2822+210delinsGTTTT
ENST00000496420.5:n.2675+206_2675+210delinsGTTTT
NM_000466.2:c.2783+206_2783+210delinsGTTTT	NP_000457.1:n.2783+206_2783+210delinsGTTTT
NM_001282677.1:c.2612+206_2612+210delinsGTTTT	NP_001269606.1:n.2612+206_2612+210delinsGTTTT
NM_001282678.1:c.2159+206_2159+210delinsGTTTT	NP_001269607.1:n.2159+206_2159+210delinsGTTTT
XM_005250433.3:c.1034+206_1034+210delinsGTTTT	XP_005250490.1:n.1034+206_1034+210delinsGTTTT
XR_242246.3:n.2879+206_2879+210delinsGTTTT
XM_017012319.2:c.1034+206_1034+210delinsGTTTT	XP_016867808.1:n.1034+206_1034+210delinsGTTTT
XR_001744808.2:n.1810+206_1810+210delinsGTTTT
XR_242246.5:n.2830+206_2830+210delinsGTTTT
NM_000466.3:c.2783+206_2783+210delinsGTTTT MANE Select	NP_000457.1:n.2783+206_2783+210delinsGTTTT
NM_001282677.2:c.2612+206_2612+210delinsGTTTT	NP_001269606.1:n.2612+206_2612+210delinsGTTTT
NM_001282678.2:c.2159+206_2159+210delinsGTTTT	NP_001269607.1:n.2159+206_2159+210delinsGTTTT