Canonical Allele Identifier: CA2776945592

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491591_92491592del , CM000669.2:g.92491591_92491592del	GRCh38
NC_000007.13:g.92120905_92120906del , CM000669.1:g.92120905_92120906del	GRCh37
NC_000007.12:g.91958841_91958842del	NCBI36
NG_008341.1:g.41940_41941del
NG_008341.2:g.41940_41941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-90_3208-89del (PEX1) MANE Select	ENSP00000248633.4:n.3208-90_3208-89del
ENST00000248633.8:c.3208-90_3208-89del (PEX1)	ENSP00000248633.4:n.3208-90_3208-89del
ENST00000428214.5:c.3037-90_3037-89del (PEX1)	ENSP00000394413.1:n.3037-90_3037-89del
ENST00000438045.5:c.2242-90_2242-89del (PEX1)	ENSP00000410438.1:n.2242-90_2242-89del
ENST00000484913.5:n.3247-90_3247-89del (PEX1)
ENST00000496420.5:n.4263-90_4263-89del (PEX1)
NM_000466.2:c.3208-90_3208-89del (PEX1)	NP_000457.1:n.3208-90_3208-89del
NM_001282677.1:c.3037-90_3037-89del (PEX1)	NP_001269606.1:n.3037-90_3037-89del
NM_001282678.1:c.2584-90_2584-89del (PEX1)	NP_001269607.1:n.2584-90_2584-89del
XM_005250433.3:c.1459-90_1459-89del (PEX1)	XP_005250490.1:n.1459-90_1459-89del
XR_242246.3:n.3304-90_3304-89del (PEX1)
XM_017012319.2:c.1459-90_1459-89del (PEX1)	XP_016867808.1:n.1459-90_1459-89del
XR_001744808.2:n.2235-90_2235-89del (PEX1)
XR_001744842.2:n.2629_2630del (GATAD1)
XR_001744843.2:n.2560_2561del (GATAD1)
XR_002956472.1:n.2686_2687del (GATAD1)
XR_002956473.1:n.2717_2718del (GATAD1)
XR_002956474.1:n.2634_2635del (GATAD1)
XR_242246.5:n.3255-90_3255-89del (PEX1)
XR_927494.3:n.1411_1412del (GATAD1)
XR_927500.3:n.1408_1409del (GATAD1)
XR_927503.3:n.1342_1343del (GATAD1)
NM_000466.3:c.3208-90_3208-89del (PEX1) MANE Select	NP_000457.1:n.3208-90_3208-89del
NM_001282677.2:c.3037-90_3037-89del (PEX1)	NP_001269606.1:n.3037-90_3037-89del
NM_001282678.2:c.2584-90_2584-89del (PEX1)	NP_001269607.1:n.2584-90_2584-89del