Canonical Allele Identifier: CA2683718012

Gene: PEX1

Linked Data

• gnomAD v4: 7-92494712-T-TTGCCAACTATGAAGCCTGATTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494712_92494713insTGCCAACTATGAAGCCTGATTC , CM000669.2:g.92494712_92494713insTGCCAACTATGAAGCCTGATTC	GRCh38
NC_000007.13:g.92124026_92124027insTGCCAACTATGAAGCCTGATTC , CM000669.1:g.92124026_92124027insTGCCAACTATGAAGCCTGATTC	GRCh37
NC_000007.12:g.91961962_91961963insTGCCAACTATGAAGCCTGATTC	NCBI36
NG_008341.1:g.38819_38820insGAATCAGGCTTCATAGTTGGCA
NG_008341.2:g.38819_38820insGAATCAGGCTTCATAGTTGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA MANE Select	ENSP00000248633.4:n.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA
ENST00000248633.8:c.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA	ENSP00000248633.4:n.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA
ENST00000428214.5:c.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA	ENSP00000394413.1:n.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA
ENST00000438045.5:c.1818-84_1818-83insGAATCAGGCTTCATAGTTGGCA	ENSP00000410438.1:n.1818-84_1818-83insGAATCAGGCTTCATAGTTGGCA
ENST00000484913.5:n.2823-84_2823-83insGAATCAGGCTTCATAGTTGGCA
ENST00000496420.5:n.2676-84_2676-83insGAATCAGGCTTCATAGTTGGCA
NM_000466.2:c.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA	NP_000457.1:n.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA
NM_001282677.1:c.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA	NP_001269606.1:n.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA
NM_001282678.1:c.2160-84_2160-83insGAATCAGGCTTCATAGTTGGCA	NP_001269607.1:n.2160-84_2160-83insGAATCAGGCTTCATAGTTGGCA
XM_005250433.3:c.1035-84_1035-83insGAATCAGGCTTCATAGTTGGCA	XP_005250490.1:n.1035-84_1035-83insGAATCAGGCTTCATAGTTGGCA
XR_242246.3:n.2880-84_2880-83insGAATCAGGCTTCATAGTTGGCA
XM_017012319.2:c.1035-84_1035-83insGAATCAGGCTTCATAGTTGGCA	XP_016867808.1:n.1035-84_1035-83insGAATCAGGCTTCATAGTTGGCA
XR_001744808.2:n.1811-84_1811-83insGAATCAGGCTTCATAGTTGGCA
XR_242246.5:n.2831-84_2831-83insGAATCAGGCTTCATAGTTGGCA
NM_000466.3:c.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA MANE Select	NP_000457.1:n.2784-84_2784-83insGAATCAGGCTTCATAGTTGGCA
NM_001282677.2:c.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA	NP_001269606.1:n.2613-84_2613-83insGAATCAGGCTTCATAGTTGGCA
NM_001282678.2:c.2160-84_2160-83insGAATCAGGCTTCATAGTTGGCA	NP_001269607.1:n.2160-84_2160-83insGAATCAGGCTTCATAGTTGGCA