Canonical Allele Identifier: CA2776945567

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491546_92491548del , CM000669.2:g.92491546_92491548del	GRCh38
NC_000007.13:g.92120860_92120862del , CM000669.1:g.92120860_92120862del	GRCh37
NC_000007.12:g.91958796_91958798del	NCBI36
NG_008341.1:g.41985_41987del
NG_008341.2:g.41985_41987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-45_3208-43del (PEX1) MANE Select	ENSP00000248633.4:n.3208-45_3208-43del
ENST00000248633.8:c.3208-45_3208-43del (PEX1)	ENSP00000248633.4:n.3208-45_3208-43del
ENST00000428214.5:c.3037-45_3037-43del (PEX1)	ENSP00000394413.1:n.3037-45_3037-43del
ENST00000438045.5:c.2242-45_2242-43del (PEX1)	ENSP00000410438.1:n.2242-45_2242-43del
ENST00000484913.5:n.3247-45_3247-43del (PEX1)
ENST00000496420.5:n.4263-45_4263-43del (PEX1)
NM_000466.2:c.3208-45_3208-43del (PEX1)	NP_000457.1:n.3208-45_3208-43del
NM_001282677.1:c.3037-45_3037-43del (PEX1)	NP_001269606.1:n.3037-45_3037-43del
NM_001282678.1:c.2584-45_2584-43del (PEX1)	NP_001269607.1:n.2584-45_2584-43del
XM_005250433.3:c.1459-45_1459-43del (PEX1)	XP_005250490.1:n.1459-45_1459-43del
XR_242246.3:n.3304-45_3304-43del (PEX1)
XM_017012319.2:c.1459-45_1459-43del (PEX1)	XP_016867808.1:n.1459-45_1459-43del
XR_001744808.2:n.2235-45_2235-43del (PEX1)
XR_001744842.2:n.2584_2586del (GATAD1)
XR_001744843.2:n.2515_2517del (GATAD1)
XR_002956472.1:n.2641_2643del (GATAD1)
XR_002956473.1:n.2672_2674del (GATAD1)
XR_002956474.1:n.2589_2591del (GATAD1)
XR_242246.5:n.3255-45_3255-43del (PEX1)
XR_927494.3:n.1366_1368del (GATAD1)
XR_927500.3:n.1363_1365del (GATAD1)
XR_927503.3:n.1297_1299del (GATAD1)
NM_000466.3:c.3208-45_3208-43del (PEX1) MANE Select	NP_000457.1:n.3208-45_3208-43del
NM_001282677.2:c.3037-45_3037-43del (PEX1)	NP_001269606.1:n.3037-45_3037-43del
NM_001282678.2:c.2584-45_2584-43del (PEX1)	NP_001269607.1:n.2584-45_2584-43del