Canonical Allele Identifier: CA2683718164

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496842-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496843_92496844insTT , CM000669.2:g.92496843_92496844insTT	GRCh38
NC_000007.13:g.92126157_92126158insTT , CM000669.1:g.92126157_92126158insTT	GRCh37
NC_000007.12:g.91964093_91964094insTT	NCBI36
NG_008341.1:g.36689_36690insAA
NG_008341.2:g.36689_36690insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-66_2719-65insAA MANE Select	ENSP00000248633.4:n.2719-66_2719-65insAA
ENST00000248633.8:c.2719-66_2719-65insAA	ENSP00000248633.4:n.2719-66_2719-65insAA
ENST00000428214.5:c.2548-66_2548-65insAA	ENSP00000394413.1:n.2548-66_2548-65insAA
ENST00000438045.5:c.1753-66_1753-65insAA	ENSP00000410438.1:n.1753-66_1753-65insAA
ENST00000484913.5:n.2758-66_2758-65insAA
ENST00000496420.5:n.2611-66_2611-65insAA
NM_000466.2:c.2719-66_2719-65insAA	NP_000457.1:n.2719-66_2719-65insAA
NM_001282677.1:c.2548-66_2548-65insAA	NP_001269606.1:n.2548-66_2548-65insAA
NM_001282678.1:c.2095-66_2095-65insAA	NP_001269607.1:n.2095-66_2095-65insAA
XM_005250433.3:c.970-66_970-65insAA	XP_005250490.1:n.970-66_970-65insAA
XR_242246.3:n.2815-66_2815-65insAA
XM_017012319.2:c.970-66_970-65insAA	XP_016867808.1:n.970-66_970-65insAA
XR_001744808.2:n.1746-66_1746-65insAA
XR_242246.5:n.2766-66_2766-65insAA
NM_000466.3:c.2719-66_2719-65insAA MANE Select	NP_000457.1:n.2719-66_2719-65insAA
NM_001282677.2:c.2548-66_2548-65insAA	NP_001269606.1:n.2548-66_2548-65insAA
NM_001282678.2:c.2095-66_2095-65insAA	NP_001269607.1:n.2095-66_2095-65insAA