Canonical Allele Identifier: CA2683716709

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489488-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489492_92489494del , CM000669.2:g.92489492_92489494del	GRCh38
NC_000007.13:g.92118806_92118808del , CM000669.1:g.92118806_92118808del	GRCh37
NC_000007.12:g.91956742_91956744del	NCBI36
NG_008341.1:g.44041_44043del
NG_008341.2:g.44041_44043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-68_3637-66del (PEX1) MANE Select	ENSP00000248633.4:n.3637-68_3637-66del
ENST00000248633.8:c.3637-68_3637-66del (PEX1)	ENSP00000248633.4:n.3637-68_3637-66del
ENST00000428214.5:c.3466-68_3466-66del (PEX1)	ENSP00000394413.1:n.3466-68_3466-66del
ENST00000438045.5:c.2671-68_2671-66del (PEX1)	ENSP00000410438.1:n.2671-68_2671-66del
ENST00000469417.1:n.534-68_534-66del (PEX1)
ENST00000477342.1:n.304_306del (PEX1)
ENST00000484913.5:n.3676-68_3676-66del (PEX1)
ENST00000496420.5:n.4687-68_4687-66del (PEX1)
NM_000466.2:c.3637-68_3637-66del (PEX1)	NP_000457.1:n.3637-68_3637-66del
NM_001282677.1:c.3466-68_3466-66del (PEX1)	NP_001269606.1:n.3466-68_3466-66del
NM_001282678.1:c.3013-68_3013-66del (PEX1)	NP_001269607.1:n.3013-68_3013-66del
XM_005250433.3:c.1888-68_1888-66del (PEX1)	XP_005250490.1:n.1888-68_1888-66del
XR_242246.3:n.3728-68_3728-66del (PEX1)
XR_927494.1:n.1036-1751_1036-1749del (GATAD1)
XR_927495.1:n.1036-594_1036-592del (GATAD1)
XR_927496.1:n.1041-1751_1041-1749del (GATAD1)
XR_927497.1:n.1036-594_1036-592del (GATAD1)
XR_927498.1:n.1124-1751_1124-1749del (GATAD1)
XR_927500.1:n.1033-1751_1033-1749del (GATAD1)
XR_927502.1:n.1033-594_1033-592del (GATAD1)
XR_927503.1:n.967-1751_967-1749del (GATAD1)
XM_017012319.2:c.1888-68_1888-66del (PEX1)	XP_016867808.1:n.1888-68_1888-66del
XR_001744808.2:n.2659-68_2659-66del (PEX1)
XR_001744842.2:n.2281-1751_2281-1749del (GATAD1)
XR_001744843.2:n.2212-1751_2212-1749del (GATAD1)
XR_002956472.1:n.2281-594_2281-592del (GATAD1)
XR_002956473.1:n.2369-1751_2369-1749del (GATAD1)
XR_002956474.1:n.2286-1751_2286-1749del (GATAD1)
XR_242246.5:n.3679-68_3679-66del (PEX1)
XR_927494.3:n.1063-1751_1063-1749del (GATAD1)
XR_927500.3:n.1060-1751_1060-1749del (GATAD1)
XR_927503.3:n.994-1751_994-1749del (GATAD1)
NM_000466.3:c.3637-68_3637-66del (PEX1) MANE Select	NP_000457.1:n.3637-68_3637-66del
NM_001282677.2:c.3466-68_3466-66del (PEX1)	NP_001269606.1:n.3466-68_3466-66del
NM_001282678.2:c.3013-68_3013-66del (PEX1)	NP_001269607.1:n.3013-68_3013-66del