Canonical Allele Identifier: CA2683717152

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491468-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491468_92491469insAG , CM000669.2:g.92491468_92491469insAG	GRCh38
NC_000007.13:g.92120782_92120783insAG , CM000669.1:g.92120782_92120783insAG	GRCh37
NC_000007.12:g.91958718_91958719insAG	NCBI36
NG_008341.1:g.42063_42064insCT
NG_008341.2:g.42063_42064insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3241_3242insCT (PEX1) MANE Select	ENSP00000248633.4:p.Leu1081ProfsTer25
ENST00000248633.8:c.3241_3242insCT (PEX1)	ENSP00000248633.4:p.Leu1081ProfsTer25
ENST00000428214.5:c.3070_3071insCT (PEX1)	ENSP00000394413.1:p.Leu1024ProfsTer25
ENST00000438045.5:c.2275_2276insCT (PEX1)	ENSP00000410438.1:p.Leu759ProfsTer25
ENST00000484913.5:n.3280_3281insCT (PEX1)
ENST00000496420.5:n.4296_4297insCT (PEX1)
NM_000466.2:c.3241_3242insCT (PEX1)	NP_000457.1:p.Leu1081ProfsTer25
NM_001282677.1:c.3070_3071insCT (PEX1)	NP_001269606.1:p.Leu1024ProfsTer25
NM_001282678.1:c.2617_2618insCT (PEX1)	NP_001269607.1:p.Leu873ProfsTer25
XM_005250433.3:c.1492_1493insCT (PEX1)	XP_005250490.1:p.Leu498ProfsTer25
XR_242246.3:n.3337_3338insCT (PEX1)
XM_017012319.2:c.1492_1493insCT (PEX1)	XP_016867808.1:p.Leu498ProfsTer25
XR_001744808.2:n.2268_2269insCT (PEX1)
XR_001744842.2:n.2506_2507insAG (GATAD1)
XR_001744843.2:n.2437_2438insAG (GATAD1)
XR_002956472.1:n.2563_2564insAG (GATAD1)
XR_002956473.1:n.2594_2595insAG (GATAD1)
XR_002956474.1:n.2511_2512insAG (GATAD1)
XR_242246.5:n.3288_3289insCT (PEX1)
XR_927494.3:n.1288_1289insAG (GATAD1)
XR_927500.3:n.1285_1286insAG (GATAD1)
XR_927503.3:n.1219_1220insAG (GATAD1)
NM_000466.3:c.3241_3242insCT (PEX1) MANE Select	NP_000457.1:p.Leu1081ProfsTer25
NM_001282677.2:c.3070_3071insCT (PEX1)	NP_001269606.1:p.Leu1024ProfsTer25
NM_001282678.2:c.2617_2618insCT (PEX1)	NP_001269607.1:p.Leu873ProfsTer25