Canonical Allele Identifier: CA2776945575

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491556_92491568del , CM000669.2:g.92491556_92491568del	GRCh38
NC_000007.13:g.92120870_92120882del , CM000669.1:g.92120870_92120882del	GRCh37
NC_000007.12:g.91958806_91958818del	NCBI36
NG_008341.1:g.41965_41977del
NG_008341.2:g.41965_41977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-65_3208-53del (PEX1) MANE Select	ENSP00000248633.4:n.3208-65_3208-53del
ENST00000248633.8:c.3208-65_3208-53del (PEX1)	ENSP00000248633.4:n.3208-65_3208-53del
ENST00000428214.5:c.3037-65_3037-53del (PEX1)	ENSP00000394413.1:n.3037-65_3037-53del
ENST00000438045.5:c.2242-65_2242-53del (PEX1)	ENSP00000410438.1:n.2242-65_2242-53del
ENST00000484913.5:n.3247-65_3247-53del (PEX1)
ENST00000496420.5:n.4263-65_4263-53del (PEX1)
NM_000466.2:c.3208-65_3208-53del (PEX1)	NP_000457.1:n.3208-65_3208-53del
NM_001282677.1:c.3037-65_3037-53del (PEX1)	NP_001269606.1:n.3037-65_3037-53del
NM_001282678.1:c.2584-65_2584-53del (PEX1)	NP_001269607.1:n.2584-65_2584-53del
XM_005250433.3:c.1459-65_1459-53del (PEX1)	XP_005250490.1:n.1459-65_1459-53del
XR_242246.3:n.3304-65_3304-53del (PEX1)
XM_017012319.2:c.1459-65_1459-53del (PEX1)	XP_016867808.1:n.1459-65_1459-53del
XR_001744808.2:n.2235-65_2235-53del (PEX1)
XR_001744842.2:n.2594_2606del (GATAD1)
XR_001744843.2:n.2525_2537del (GATAD1)
XR_002956472.1:n.2651_2663del (GATAD1)
XR_002956473.1:n.2682_2694del (GATAD1)
XR_002956474.1:n.2599_2611del (GATAD1)
XR_242246.5:n.3255-65_3255-53del (PEX1)
XR_927494.3:n.1376_1388del (GATAD1)
XR_927500.3:n.1373_1385del (GATAD1)
XR_927503.3:n.1307_1319del (GATAD1)
NM_000466.3:c.3208-65_3208-53del (PEX1) MANE Select	NP_000457.1:n.3208-65_3208-53del
NM_001282677.2:c.3037-65_3037-53del (PEX1)	NP_001269606.1:n.3037-65_3037-53del
NM_001282678.2:c.2584-65_2584-53del (PEX1)	NP_001269607.1:n.2584-65_2584-53del