Canonical Allele Identifier: CA2683716735

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489540-TATAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489545_92489549del , CM000669.2:g.92489545_92489549del	GRCh38
NC_000007.13:g.92118859_92118863del , CM000669.1:g.92118859_92118863del	GRCh37
NC_000007.12:g.91956795_91956799del	NCBI36
NG_008341.1:g.43987_43991del
NG_008341.2:g.43987_43991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-122_3637-118del (PEX1) MANE Select	ENSP00000248633.4:n.3637-122_3637-118del
ENST00000248633.8:c.3637-122_3637-118del (PEX1)	ENSP00000248633.4:n.3637-122_3637-118del
ENST00000428214.5:c.3466-122_3466-118del (PEX1)	ENSP00000394413.1:n.3466-122_3466-118del
ENST00000438045.5:c.2671-122_2671-118del (PEX1)	ENSP00000410438.1:n.2671-122_2671-118del
ENST00000469417.1:n.534-122_534-118del (PEX1)
ENST00000477342.1:n.250_254del (PEX1)
ENST00000484913.5:n.3676-122_3676-118del (PEX1)
ENST00000496420.5:n.4687-122_4687-118del (PEX1)
NM_000466.2:c.3637-122_3637-118del (PEX1)	NP_000457.1:n.3637-122_3637-118del
NM_001282677.1:c.3466-122_3466-118del (PEX1)	NP_001269606.1:n.3466-122_3466-118del
NM_001282678.1:c.3013-122_3013-118del (PEX1)	NP_001269607.1:n.3013-122_3013-118del
XM_005250433.3:c.1888-122_1888-118del (PEX1)	XP_005250490.1:n.1888-122_1888-118del
XR_242246.3:n.3728-122_3728-118del (PEX1)
XR_927494.1:n.1036-1698_1036-1694del (GATAD1)
XR_927495.1:n.1036-541_1036-537del (GATAD1)
XR_927496.1:n.1041-1698_1041-1694del (GATAD1)
XR_927497.1:n.1036-541_1036-537del (GATAD1)
XR_927498.1:n.1124-1698_1124-1694del (GATAD1)
XR_927500.1:n.1033-1698_1033-1694del (GATAD1)
XR_927502.1:n.1033-541_1033-537del (GATAD1)
XR_927503.1:n.967-1698_967-1694del (GATAD1)
XM_017012319.2:c.1888-122_1888-118del (PEX1)	XP_016867808.1:n.1888-122_1888-118del
XR_001744808.2:n.2659-122_2659-118del (PEX1)
XR_001744842.2:n.2281-1698_2281-1694del (GATAD1)
XR_001744843.2:n.2212-1698_2212-1694del (GATAD1)
XR_002956472.1:n.2281-541_2281-537del (GATAD1)
XR_002956473.1:n.2369-1698_2369-1694del (GATAD1)
XR_002956474.1:n.2286-1698_2286-1694del (GATAD1)
XR_242246.5:n.3679-122_3679-118del (PEX1)
XR_927494.3:n.1063-1698_1063-1694del (GATAD1)
XR_927500.3:n.1060-1698_1060-1694del (GATAD1)
XR_927503.3:n.994-1698_994-1694del (GATAD1)
NM_000466.3:c.3637-122_3637-118del (PEX1) MANE Select	NP_000457.1:n.3637-122_3637-118del
NM_001282677.2:c.3466-122_3466-118del (PEX1)	NP_001269606.1:n.3466-122_3466-118del
NM_001282678.2:c.3013-122_3013-118del (PEX1)	NP_001269607.1:n.3013-122_3013-118del