Canonical Allele Identifier: CA2573142557

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1384557
• ClinVar RCV Id: RCV001897674
• dbSNP Id: rs2116059937

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491451_92491452del , CM000669.2:g.92491451_92491452del	GRCh38
NC_000007.13:g.92120765_92120766del , CM000669.1:g.92120765_92120766del	GRCh37
NC_000007.12:g.91958701_91958702del	NCBI36
NG_008341.1:g.42081_42082del
NG_008341.2:g.42081_42082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3259_3260del (PEX1) MANE Select	ENSP00000248633.4:p.Leu1087Ter
ENST00000248633.8:c.3259_3260del (PEX1)	ENSP00000248633.4:p.Leu1087Ter
ENST00000428214.5:c.3088_3089del (PEX1)	ENSP00000394413.1:p.Leu1030Ter
ENST00000438045.5:c.2293_2294del (PEX1)	ENSP00000410438.1:p.Leu765Ter
ENST00000484913.5:n.3298_3299del (PEX1)
ENST00000496420.5:n.4314_4315del (PEX1)
NM_000466.2:c.3259_3260del (PEX1)	NP_000457.1:p.Leu1087Ter
NM_001282677.1:c.3088_3089del (PEX1)	NP_001269606.1:p.Leu1030Ter
NM_001282678.1:c.2635_2636del (PEX1)	NP_001269607.1:p.Leu879Ter
XM_005250433.3:c.1510_1511del (PEX1)	XP_005250490.1:p.Leu504Ter
XR_242246.3:n.3355_3356del (PEX1)
XM_017012319.2:c.1510_1511del (PEX1)	XP_016867808.1:p.Leu504Ter
XR_001744808.2:n.2286_2287del (PEX1)
XR_001744842.2:n.2489_2490del (GATAD1)
XR_001744843.2:n.2420_2421del (GATAD1)
XR_002956472.1:n.2546_2547del (GATAD1)
XR_002956473.1:n.2577_2578del (GATAD1)
XR_002956474.1:n.2494_2495del (GATAD1)
XR_242246.5:n.3306_3307del (PEX1)
XR_927494.3:n.1271_1272del (GATAD1)
XR_927500.3:n.1268_1269del (GATAD1)
XR_927503.3:n.1202_1203del (GATAD1)
NM_000466.3:c.3259_3260del (PEX1) MANE Select	NP_000457.1:p.Leu1087Ter
NM_001282677.2:c.3088_3089del (PEX1)	NP_001269606.1:p.Leu1030Ter
NM_001282678.2:c.2635_2636del (PEX1)	NP_001269607.1:p.Leu879Ter