Canonical Allele Identifier: CA368171366

Gene: PEX1

Linked Data

• dbSNP Id: rs1164987140
• gnomAD v2: 7-92126151-TCTGA-T
• gnomAD v3: 7-92496837-TCTGA-T
• gnomAD v4: 7-92496837-TCTGA-T
• MyVariant Identifiers: chr7:g.92126152_92126155del (hg19) ; chr7:g.92496839_92496842del (hg38) ; chr7:g.92496838_92496841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496840_92496843del , CM000669.2:g.92496840_92496843del	GRCh38
NC_000007.13:g.92126154_92126157del , CM000669.1:g.92126154_92126157del	GRCh37
NC_000007.12:g.91964090_91964093del	NCBI36
NG_008341.1:g.36691_36694del
NG_008341.2:g.36691_36694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-64_2719-61del MANE Select	ENSP00000248633.4:n.2719-64_2719-61del
ENST00000248633.8:c.2719-64_2719-61del	ENSP00000248633.4:n.2719-64_2719-61del
ENST00000428214.5:c.2548-64_2548-61del	ENSP00000394413.1:n.2548-64_2548-61del
ENST00000438045.5:c.1753-64_1753-61del	ENSP00000410438.1:n.1753-64_1753-61del
ENST00000484913.5:n.2758-64_2758-61del
ENST00000496420.5:n.2611-64_2611-61del
NM_000466.2:c.2719-64_2719-61del	NP_000457.1:n.2719-64_2719-61del
NM_001282677.1:c.2548-64_2548-61del	NP_001269606.1:n.2548-64_2548-61del
NM_001282678.1:c.2095-64_2095-61del	NP_001269607.1:n.2095-64_2095-61del
XM_005250433.3:c.970-64_970-61del	XP_005250490.1:n.970-64_970-61del
XR_242246.3:n.2815-64_2815-61del
XM_017012319.2:c.970-64_970-61del	XP_016867808.1:n.970-64_970-61del
XR_001744808.2:n.1746-64_1746-61del
XR_242246.5:n.2766-64_2766-61del
NM_000466.3:c.2719-64_2719-61del MANE Select	NP_000457.1:n.2719-64_2719-61del
NM_001282677.2:c.2548-64_2548-61del	NP_001269606.1:n.2548-64_2548-61del
NM_001282678.2:c.2095-64_2095-61del	NP_001269607.1:n.2095-64_2095-61del