Canonical Allele Identifier: CA2776945594

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491605_92491609del , CM000669.2:g.92491605_92491609del	GRCh38
NC_000007.13:g.92120919_92120923del , CM000669.1:g.92120919_92120923del	GRCh37
NC_000007.12:g.91958855_91958859del	NCBI36
NG_008341.1:g.41923_41927del
NG_008341.2:g.41923_41927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-107_3208-103del (PEX1) MANE Select	ENSP00000248633.4:n.3208-107_3208-103del
ENST00000248633.8:c.3208-107_3208-103del (PEX1)	ENSP00000248633.4:n.3208-107_3208-103del
ENST00000428214.5:c.3037-107_3037-103del (PEX1)	ENSP00000394413.1:n.3037-107_3037-103del
ENST00000438045.5:c.2242-107_2242-103del (PEX1)	ENSP00000410438.1:n.2242-107_2242-103del
ENST00000484913.5:n.3247-107_3247-103del (PEX1)
ENST00000496420.5:n.4263-107_4263-103del (PEX1)
NM_000466.2:c.3208-107_3208-103del (PEX1)	NP_000457.1:n.3208-107_3208-103del
NM_001282677.1:c.3037-107_3037-103del (PEX1)	NP_001269606.1:n.3037-107_3037-103del
NM_001282678.1:c.2584-107_2584-103del (PEX1)	NP_001269607.1:n.2584-107_2584-103del
XM_005250433.3:c.1459-107_1459-103del (PEX1)	XP_005250490.1:n.1459-107_1459-103del
XR_242246.3:n.3304-107_3304-103del (PEX1)
XM_017012319.2:c.1459-107_1459-103del (PEX1)	XP_016867808.1:n.1459-107_1459-103del
XR_001744808.2:n.2235-107_2235-103del (PEX1)
XR_001744842.2:n.2643_2647del (GATAD1)
XR_001744843.2:n.2574_2578del (GATAD1)
XR_002956472.1:n.2700_2704del (GATAD1)
XR_002956473.1:n.2731_2735del (GATAD1)
XR_002956474.1:n.2648_2652del (GATAD1)
XR_242246.5:n.3255-107_3255-103del (PEX1)
XR_927494.3:n.1425_1429del (GATAD1)
XR_927500.3:n.1422_1426del (GATAD1)
XR_927503.3:n.1356_1360del (GATAD1)
NM_000466.3:c.3208-107_3208-103del (PEX1) MANE Select	NP_000457.1:n.3208-107_3208-103del
NM_001282677.2:c.3037-107_3037-103del (PEX1)	NP_001269606.1:n.3037-107_3037-103del
NM_001282678.2:c.2584-107_2584-103del (PEX1)	NP_001269607.1:n.2584-107_2584-103del