Canonical Allele Identifier: CA2551486018

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491417_92491418del , CM000669.2:g.92491417_92491418del	GRCh38
NC_000007.13:g.92120731_92120732del , CM000669.1:g.92120731_92120732del	GRCh37
NC_000007.12:g.91958667_91958668del	NCBI36
NG_008341.1:g.42114_42115del
NG_008341.2:g.42114_42115del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3292_3293del (PEX1) MANE Select	ENSP00000248633.4:p.Gly1098ArgfsTer22
ENST00000248633.8:c.3292_3293del (PEX1)	ENSP00000248633.4:p.Gly1098ArgfsTer22
ENST00000428214.5:c.3121_3122del (PEX1)	ENSP00000394413.1:p.Gly1041ArgfsTer22
ENST00000438045.5:c.2326_2327del (PEX1)	ENSP00000410438.1:p.Gly776ArgfsTer22
ENST00000484913.5:n.3331_3332del (PEX1)
ENST00000496420.5:n.4347_4348del (PEX1)
NM_000466.2:c.3292_3293del (PEX1)	NP_000457.1:p.Gly1098ArgfsTer22
NM_001282677.1:c.3121_3122del (PEX1)	NP_001269606.1:p.Gly1041ArgfsTer22
NM_001282678.1:c.2668_2669del (PEX1)	NP_001269607.1:p.Gly890ArgfsTer22
XM_005250433.3:c.1543_1544del (PEX1)	XP_005250490.1:p.Gly515ArgfsTer22
XR_242246.3:n.3388_3389del (PEX1)
XM_017012319.2:c.1543_1544del (PEX1)	XP_016867808.1:p.Gly515ArgfsTer22
XR_001744808.2:n.2319_2320del (PEX1)
XR_001744842.2:n.2455_2456del (GATAD1)
XR_001744843.2:n.2386_2387del (GATAD1)
XR_002956472.1:n.2512_2513del (GATAD1)
XR_002956473.1:n.2543_2544del (GATAD1)
XR_002956474.1:n.2460_2461del (GATAD1)
XR_242246.5:n.3339_3340del (PEX1)
XR_927494.3:n.1237_1238del (GATAD1)
XR_927500.3:n.1234_1235del (GATAD1)
XR_927503.3:n.1168_1169del (GATAD1)
NM_000466.3:c.3292_3293del (PEX1) MANE Select	NP_000457.1:p.Gly1098ArgfsTer22
NM_001282677.2:c.3121_3122del (PEX1)	NP_001269606.1:p.Gly1041ArgfsTer22
NM_001282678.2:c.2668_2669del (PEX1)	NP_001269607.1:p.Gly890ArgfsTer22