Canonical Allele Identifier: CA2578937786

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491433_92491434del , CM000669.2:g.92491433_92491434del	GRCh38
NC_000007.13:g.92120747_92120748del , CM000669.1:g.92120747_92120748del	GRCh37
NC_000007.12:g.91958683_91958684del	NCBI36
NG_008341.1:g.42100_42101del
NG_008341.2:g.42100_42101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3278_3279del (PEX1) MANE Select	ENSP00000248633.4:p.Ser1093Ter
ENST00000248633.8:c.3278_3279del (PEX1)	ENSP00000248633.4:p.Ser1093Ter
ENST00000428214.5:c.3107_3108del (PEX1)	ENSP00000394413.1:p.Ser1036Ter
ENST00000438045.5:c.2312_2313del (PEX1)	ENSP00000410438.1:p.Ser771Ter
ENST00000484913.5:n.3317_3318del (PEX1)
ENST00000496420.5:n.4333_4334del (PEX1)
NM_000466.2:c.3278_3279del (PEX1)	NP_000457.1:p.Ser1093Ter
NM_001282677.1:c.3107_3108del (PEX1)	NP_001269606.1:p.Ser1036Ter
NM_001282678.1:c.2654_2655del (PEX1)	NP_001269607.1:p.Ser885Ter
XM_005250433.3:c.1529_1530del (PEX1)	XP_005250490.1:p.Ser510Ter
XR_242246.3:n.3374_3375del (PEX1)
XM_017012319.2:c.1529_1530del (PEX1)	XP_016867808.1:p.Ser510Ter
XR_001744808.2:n.2305_2306del (PEX1)
XR_001744842.2:n.2471_2472del (GATAD1)
XR_001744843.2:n.2402_2403del (GATAD1)
XR_002956472.1:n.2528_2529del (GATAD1)
XR_002956473.1:n.2559_2560del (GATAD1)
XR_002956474.1:n.2476_2477del (GATAD1)
XR_242246.5:n.3325_3326del (PEX1)
XR_927494.3:n.1253_1254del (GATAD1)
XR_927500.3:n.1250_1251del (GATAD1)
XR_927503.3:n.1184_1185del (GATAD1)
NM_000466.3:c.3278_3279del (PEX1) MANE Select	NP_000457.1:p.Ser1093Ter
NM_001282677.2:c.3107_3108del (PEX1)	NP_001269606.1:p.Ser1036Ter
NM_001282678.2:c.2654_2655del (PEX1)	NP_001269607.1:p.Ser885Ter