Canonical Allele Identifier: CA2683721350

Gene: PEX1

Linked Data

• gnomAD v4: 7-92522155-C-CATCCTAGGACTTCTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522155_92522156insATCCTAGGACTTCTAA , CM000669.2:g.92522155_92522156insATCCTAGGACTTCTAA	GRCh38
NC_000007.13:g.92151469_92151470insATCCTAGGACTTCTAA , CM000669.1:g.92151469_92151470insATCCTAGGACTTCTAA	GRCh37
NC_000007.12:g.91989405_91989406insATCCTAGGACTTCTAA	NCBI36
NG_008341.1:g.11376_11377insTTAGAAGTCCTAGGAT
NG_008341.2:g.11376_11377insTTAGAAGTCCTAGGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.219_220insTTAGAAGTCCTAGGAT MANE Select	ENSP00000248633.4:p.Ala74LeufsTer7
ENST00000248633.8:c.219_220insTTAGAAGTCCTAGGAT	ENSP00000248633.4:p.Ala74LeufsTer7
ENST00000428214.5:c.219_220insTTAGAAGTCCTAGGAT	ENSP00000394413.1:p.Ala74LeufsTer7
ENST00000438045.5:c.219_220insTTAGAAGTCCTAGGAT	ENSP00000410438.1:p.Ala74LeufsTer7
ENST00000484913.5:n.223_224insTTAGAAGTCCTAGGAT
NM_000466.2:c.219_220insTTAGAAGTCCTAGGAT	NP_000457.1:p.Ala74LeufsTer7
NM_001282677.1:c.219_220insTTAGAAGTCCTAGGAT	NP_001269606.1:p.Ala74LeufsTer7
NM_001282678.1:c.-441_-440insTTAGAAGTCCTAGGAT	NP_001269607.1:n.-441_-440insTTAGAAGTCCTA...
XR_242246.3:n.315_316insTTAGAAGTCCTAGGAT
XR_242246.5:n.266_267insTTAGAAGTCCTAGGAT
NM_000466.3:c.219_220insTTAGAAGTCCTAGGAT MANE Select	NP_000457.1:p.Ala74LeufsTer7
NM_001282677.2:c.219_220insTTAGAAGTCCTAGGAT	NP_001269606.1:p.Ala74LeufsTer7
NM_001282678.2:c.-441_-440insTTAGAAGTCCTAGGAT	NP_001269607.1:n.-441_-440insTTAGAAGTCCTA...