Canonical Allele Identifier: CA2683717155

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491579-CATTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491583_92491587del , CM000669.2:g.92491583_92491587del	GRCh38
NC_000007.13:g.92120897_92120901del , CM000669.1:g.92120897_92120901del	GRCh37
NC_000007.12:g.91958833_91958837del	NCBI36
NG_008341.1:g.41948_41952del
NG_008341.2:g.41948_41952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-82_3208-78del (PEX1) MANE Select	ENSP00000248633.4:n.3208-82_3208-78del
ENST00000248633.8:c.3208-82_3208-78del (PEX1)	ENSP00000248633.4:n.3208-82_3208-78del
ENST00000428214.5:c.3037-82_3037-78del (PEX1)	ENSP00000394413.1:n.3037-82_3037-78del
ENST00000438045.5:c.2242-82_2242-78del (PEX1)	ENSP00000410438.1:n.2242-82_2242-78del
ENST00000484913.5:n.3247-82_3247-78del (PEX1)
ENST00000496420.5:n.4263-82_4263-78del (PEX1)
NM_000466.2:c.3208-82_3208-78del (PEX1)	NP_000457.1:n.3208-82_3208-78del
NM_001282677.1:c.3037-82_3037-78del (PEX1)	NP_001269606.1:n.3037-82_3037-78del
NM_001282678.1:c.2584-82_2584-78del (PEX1)	NP_001269607.1:n.2584-82_2584-78del
XM_005250433.3:c.1459-82_1459-78del (PEX1)	XP_005250490.1:n.1459-82_1459-78del
XR_242246.3:n.3304-82_3304-78del (PEX1)
XM_017012319.2:c.1459-82_1459-78del (PEX1)	XP_016867808.1:n.1459-82_1459-78del
XR_001744808.2:n.2235-82_2235-78del (PEX1)
XR_001744842.2:n.2621_2625del (GATAD1)
XR_001744843.2:n.2552_2556del (GATAD1)
XR_002956472.1:n.2678_2682del (GATAD1)
XR_002956473.1:n.2709_2713del (GATAD1)
XR_002956474.1:n.2626_2630del (GATAD1)
XR_242246.5:n.3255-82_3255-78del (PEX1)
XR_927494.3:n.1403_1407del (GATAD1)
XR_927500.3:n.1400_1404del (GATAD1)
XR_927503.3:n.1334_1338del (GATAD1)
NM_000466.3:c.3208-82_3208-78del (PEX1) MANE Select	NP_000457.1:n.3208-82_3208-78del
NM_001282677.2:c.3037-82_3037-78del (PEX1)	NP_001269606.1:n.3037-82_3037-78del
NM_001282678.2:c.2584-82_2584-78del (PEX1)	NP_001269607.1:n.2584-82_2584-78del