Canonical Allele Identifier: CA2776945563

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491529_92491530del , CM000669.2:g.92491529_92491530del	GRCh38
NC_000007.13:g.92120843_92120844del , CM000669.1:g.92120843_92120844del	GRCh37
NC_000007.12:g.91958779_91958780del	NCBI36
NG_008341.1:g.42003_42004del
NG_008341.2:g.42003_42004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-27_3208-26del (PEX1) MANE Select	ENSP00000248633.4:n.3208-27_3208-26del
ENST00000248633.8:c.3208-27_3208-26del (PEX1)	ENSP00000248633.4:n.3208-27_3208-26del
ENST00000428214.5:c.3037-27_3037-26del (PEX1)	ENSP00000394413.1:n.3037-27_3037-26del
ENST00000438045.5:c.2242-27_2242-26del (PEX1)	ENSP00000410438.1:n.2242-27_2242-26del
ENST00000484913.5:n.3247-27_3247-26del (PEX1)
ENST00000496420.5:n.4263-27_4263-26del (PEX1)
NM_000466.2:c.3208-27_3208-26del (PEX1)	NP_000457.1:n.3208-27_3208-26del
NM_001282677.1:c.3037-27_3037-26del (PEX1)	NP_001269606.1:n.3037-27_3037-26del
NM_001282678.1:c.2584-27_2584-26del (PEX1)	NP_001269607.1:n.2584-27_2584-26del
XM_005250433.3:c.1459-27_1459-26del (PEX1)	XP_005250490.1:n.1459-27_1459-26del
XR_242246.3:n.3304-27_3304-26del (PEX1)
XM_017012319.2:c.1459-27_1459-26del (PEX1)	XP_016867808.1:n.1459-27_1459-26del
XR_001744808.2:n.2235-27_2235-26del (PEX1)
XR_001744842.2:n.2567_2568del (GATAD1)
XR_001744843.2:n.2498_2499del (GATAD1)
XR_002956472.1:n.2624_2625del (GATAD1)
XR_002956473.1:n.2655_2656del (GATAD1)
XR_002956474.1:n.2572_2573del (GATAD1)
XR_242246.5:n.3255-27_3255-26del (PEX1)
XR_927494.3:n.1349_1350del (GATAD1)
XR_927500.3:n.1346_1347del (GATAD1)
XR_927503.3:n.1280_1281del (GATAD1)
NM_000466.3:c.3208-27_3208-26del (PEX1) MANE Select	NP_000457.1:n.3208-27_3208-26del
NM_001282677.2:c.3037-27_3037-26del (PEX1)	NP_001269606.1:n.3037-27_3037-26del
NM_001282678.2:c.2584-27_2584-26del (PEX1)	NP_001269607.1:n.2584-27_2584-26del