Canonical Allele Identifier: CA2683718193

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496897-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496897_92496898insATT , CM000669.2:g.92496897_92496898insATT	GRCh38
NC_000007.13:g.92126211_92126212insATT , CM000669.1:g.92126211_92126212insATT	GRCh37
NC_000007.12:g.91964147_91964148insATT	NCBI36
NG_008341.1:g.36634_36635insAAT
NG_008341.2:g.36634_36635insAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-121_2719-120insAAT MANE Select	ENSP00000248633.4:n.2719-121_2719-120insAAT
ENST00000248633.8:c.2719-121_2719-120insAAT	ENSP00000248633.4:n.2719-121_2719-120insAAT
ENST00000428214.5:c.2548-121_2548-120insAAT	ENSP00000394413.1:n.2548-121_2548-120insAAT
ENST00000438045.5:c.1753-121_1753-120insAAT	ENSP00000410438.1:n.1753-121_1753-120insAAT
ENST00000484913.5:n.2758-121_2758-120insAAT
ENST00000496420.5:n.2611-121_2611-120insAAT
NM_000466.2:c.2719-121_2719-120insAAT	NP_000457.1:n.2719-121_2719-120insAAT
NM_001282677.1:c.2548-121_2548-120insAAT	NP_001269606.1:n.2548-121_2548-120insAAT
NM_001282678.1:c.2095-121_2095-120insAAT	NP_001269607.1:n.2095-121_2095-120insAAT
XM_005250433.3:c.970-121_970-120insAAT	XP_005250490.1:n.970-121_970-120insAAT
XR_242246.3:n.2815-121_2815-120insAAT
XM_017012319.2:c.970-121_970-120insAAT	XP_016867808.1:n.970-121_970-120insAAT
XR_001744808.2:n.1746-121_1746-120insAAT
XR_242246.5:n.2766-121_2766-120insAAT
NM_000466.3:c.2719-121_2719-120insAAT MANE Select	NP_000457.1:n.2719-121_2719-120insAAT
NM_001282677.2:c.2548-121_2548-120insAAT	NP_001269606.1:n.2548-121_2548-120insAAT
NM_001282678.2:c.2095-121_2095-120insAAT	NP_001269607.1:n.2095-121_2095-120insAAT