Canonical Allele Identifier: CA2776945587

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491581_92491595del , CM000669.2:g.92491581_92491595del	GRCh38
NC_000007.13:g.92120895_92120909del , CM000669.1:g.92120895_92120909del	GRCh37
NC_000007.12:g.91958831_91958845del	NCBI36
NG_008341.1:g.41937_41951del
NG_008341.2:g.41937_41951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-93_3208-79del (PEX1) MANE Select	ENSP00000248633.4:n.3208-93_3208-79del
ENST00000248633.8:c.3208-93_3208-79del (PEX1)	ENSP00000248633.4:n.3208-93_3208-79del
ENST00000428214.5:c.3037-93_3037-79del (PEX1)	ENSP00000394413.1:n.3037-93_3037-79del
ENST00000438045.5:c.2242-93_2242-79del (PEX1)	ENSP00000410438.1:n.2242-93_2242-79del
ENST00000484913.5:n.3247-93_3247-79del (PEX1)
ENST00000496420.5:n.4263-93_4263-79del (PEX1)
NM_000466.2:c.3208-93_3208-79del (PEX1)	NP_000457.1:n.3208-93_3208-79del
NM_001282677.1:c.3037-93_3037-79del (PEX1)	NP_001269606.1:n.3037-93_3037-79del
NM_001282678.1:c.2584-93_2584-79del (PEX1)	NP_001269607.1:n.2584-93_2584-79del
XM_005250433.3:c.1459-93_1459-79del (PEX1)	XP_005250490.1:n.1459-93_1459-79del
XR_242246.3:n.3304-93_3304-79del (PEX1)
XM_017012319.2:c.1459-93_1459-79del (PEX1)	XP_016867808.1:n.1459-93_1459-79del
XR_001744808.2:n.2235-93_2235-79del (PEX1)
XR_001744842.2:n.2619_2633del (GATAD1)
XR_001744843.2:n.2550_2564del (GATAD1)
XR_002956472.1:n.2676_2690del (GATAD1)
XR_002956473.1:n.2707_2721del (GATAD1)
XR_002956474.1:n.2624_2638del (GATAD1)
XR_242246.5:n.3255-93_3255-79del (PEX1)
XR_927494.3:n.1401_1415del (GATAD1)
XR_927500.3:n.1398_1412del (GATAD1)
XR_927503.3:n.1332_1346del (GATAD1)
NM_000466.3:c.3208-93_3208-79del (PEX1) MANE Select	NP_000457.1:n.3208-93_3208-79del
NM_001282677.2:c.3037-93_3037-79del (PEX1)	NP_001269606.1:n.3037-93_3037-79del
NM_001282678.2:c.2584-93_2584-79del (PEX1)	NP_001269607.1:n.2584-93_2584-79del