Canonical Allele Identifier: CA2578937788

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491570-CATAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491575_92491578del , CM000669.2:g.92491575_92491578del	GRCh38
NC_000007.13:g.92120889_92120892del , CM000669.1:g.92120889_92120892del	GRCh37
NC_000007.12:g.91958825_91958828del	NCBI36
NG_008341.1:g.41958_41961del
NG_008341.2:g.41958_41961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-72_3208-69del (PEX1) MANE Select	ENSP00000248633.4:n.3208-72_3208-69del
ENST00000248633.8:c.3208-72_3208-69del (PEX1)	ENSP00000248633.4:n.3208-72_3208-69del
ENST00000428214.5:c.3037-72_3037-69del (PEX1)	ENSP00000394413.1:n.3037-72_3037-69del
ENST00000438045.5:c.2242-72_2242-69del (PEX1)	ENSP00000410438.1:n.2242-72_2242-69del
ENST00000484913.5:n.3247-72_3247-69del (PEX1)
ENST00000496420.5:n.4263-72_4263-69del (PEX1)
NM_000466.2:c.3208-72_3208-69del (PEX1)	NP_000457.1:n.3208-72_3208-69del
NM_001282677.1:c.3037-72_3037-69del (PEX1)	NP_001269606.1:n.3037-72_3037-69del
NM_001282678.1:c.2584-72_2584-69del (PEX1)	NP_001269607.1:n.2584-72_2584-69del
XM_005250433.3:c.1459-72_1459-69del (PEX1)	XP_005250490.1:n.1459-72_1459-69del
XR_242246.3:n.3304-72_3304-69del (PEX1)
XM_017012319.2:c.1459-72_1459-69del (PEX1)	XP_016867808.1:n.1459-72_1459-69del
XR_001744808.2:n.2235-72_2235-69del (PEX1)
XR_001744842.2:n.2613_2616del (GATAD1)
XR_001744843.2:n.2544_2547del (GATAD1)
XR_002956472.1:n.2670_2673del (GATAD1)
XR_002956473.1:n.2701_2704del (GATAD1)
XR_002956474.1:n.2618_2621del (GATAD1)
XR_242246.5:n.3255-72_3255-69del (PEX1)
XR_927494.3:n.1395_1398del (GATAD1)
XR_927500.3:n.1392_1395del (GATAD1)
XR_927503.3:n.1326_1329del (GATAD1)
NM_000466.3:c.3208-72_3208-69del (PEX1) MANE Select	NP_000457.1:n.3208-72_3208-69del
NM_001282677.2:c.3037-72_3037-69del (PEX1)	NP_001269606.1:n.3037-72_3037-69del
NM_001282678.2:c.2584-72_2584-69del (PEX1)	NP_001269607.1:n.2584-72_2584-69del