Canonical Allele Identifier: CA2776945585

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491578_92491579del , CM000669.2:g.92491578_92491579del	GRCh38
NC_000007.13:g.92120892_92120893del , CM000669.1:g.92120892_92120893del	GRCh37
NC_000007.12:g.91958828_91958829del	NCBI36
NG_008341.1:g.41953_41954del
NG_008341.2:g.41953_41954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-77_3208-76del (PEX1) MANE Select	ENSP00000248633.4:n.3208-77_3208-76del
ENST00000248633.8:c.3208-77_3208-76del (PEX1)	ENSP00000248633.4:n.3208-77_3208-76del
ENST00000428214.5:c.3037-77_3037-76del (PEX1)	ENSP00000394413.1:n.3037-77_3037-76del
ENST00000438045.5:c.2242-77_2242-76del (PEX1)	ENSP00000410438.1:n.2242-77_2242-76del
ENST00000484913.5:n.3247-77_3247-76del (PEX1)
ENST00000496420.5:n.4263-77_4263-76del (PEX1)
NM_000466.2:c.3208-77_3208-76del (PEX1)	NP_000457.1:n.3208-77_3208-76del
NM_001282677.1:c.3037-77_3037-76del (PEX1)	NP_001269606.1:n.3037-77_3037-76del
NM_001282678.1:c.2584-77_2584-76del (PEX1)	NP_001269607.1:n.2584-77_2584-76del
XM_005250433.3:c.1459-77_1459-76del (PEX1)	XP_005250490.1:n.1459-77_1459-76del
XR_242246.3:n.3304-77_3304-76del (PEX1)
XM_017012319.2:c.1459-77_1459-76del (PEX1)	XP_016867808.1:n.1459-77_1459-76del
XR_001744808.2:n.2235-77_2235-76del (PEX1)
XR_001744842.2:n.2616_2617del (GATAD1)
XR_001744843.2:n.2547_2548del (GATAD1)
XR_002956472.1:n.2673_2674del (GATAD1)
XR_002956473.1:n.2704_2705del (GATAD1)
XR_002956474.1:n.2621_2622del (GATAD1)
XR_242246.5:n.3255-77_3255-76del (PEX1)
XR_927494.3:n.1398_1399del (GATAD1)
XR_927500.3:n.1395_1396del (GATAD1)
XR_927503.3:n.1329_1330del (GATAD1)
NM_000466.3:c.3208-77_3208-76del (PEX1) MANE Select	NP_000457.1:n.3208-77_3208-76del
NM_001282677.2:c.3037-77_3037-76del (PEX1)	NP_001269606.1:n.3037-77_3037-76del
NM_001282678.2:c.2584-77_2584-76del (PEX1)	NP_001269607.1:n.2584-77_2584-76del