Canonical Allele Identifier: CA2683717062

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92489819-TAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489821_92489823del , CM000669.2:g.92489821_92489823del	GRCh38
NC_000007.13:g.92119135_92119137del , CM000669.1:g.92119135_92119137del	GRCh37
NC_000007.12:g.91957071_91957073del	NCBI36
NG_008341.1:g.43710_43712del
NG_008341.2:g.43710_43712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3528_3530del (PEX1) MANE Select	ENSP00000248633.4:p.Leu1177del
ENST00000248633.8:c.3528_3530del (PEX1)	ENSP00000248633.4:p.Leu1177del
ENST00000428214.5:c.3357_3359del (PEX1)	ENSP00000394413.1:p.Leu1120del
ENST00000438045.5:c.2562_2564del (PEX1)	ENSP00000410438.1:p.Leu855del
ENST00000469417.1:n.425_427del (PEX1)
ENST00000484913.5:n.3567_3569del (PEX1)
ENST00000496420.5:n.4583_4585del (PEX1)
NM_000466.2:c.3528_3530del (PEX1)	NP_000457.1:p.Leu1177del
NM_001282677.1:c.3357_3359del (PEX1)	NP_001269606.1:p.Leu1120del
NM_001282678.1:c.2904_2906del (PEX1)	NP_001269607.1:p.Leu969del
XM_005250433.3:c.1779_1781del (PEX1)	XP_005250490.1:p.Leu594del
XR_242246.3:n.3624_3626del (PEX1)
XR_927494.1:n.1036-1422_1036-1420del (GATAD1)
XR_927495.1:n.1036-265_1036-263del (GATAD1)
XR_927496.1:n.1041-1422_1041-1420del (GATAD1)
XR_927497.1:n.1036-265_1036-263del (GATAD1)
XR_927498.1:n.1124-1422_1124-1420del (GATAD1)
XR_927500.1:n.1033-1422_1033-1420del (GATAD1)
XR_927502.1:n.1033-265_1033-263del (GATAD1)
XR_927503.1:n.967-1422_967-1420del (GATAD1)
XM_017012319.2:c.1779_1781del (PEX1)	XP_016867808.1:p.Leu594del
XR_001744808.2:n.2555_2557del (PEX1)
XR_001744842.2:n.2281-1422_2281-1420del (GATAD1)
XR_001744843.2:n.2212-1422_2212-1420del (GATAD1)
XR_002956472.1:n.2281-265_2281-263del (GATAD1)
XR_002956473.1:n.2369-1422_2369-1420del (GATAD1)
XR_002956474.1:n.2286-1422_2286-1420del (GATAD1)
XR_242246.5:n.3575_3577del (PEX1)
XR_927494.3:n.1063-1422_1063-1420del (GATAD1)
XR_927500.3:n.1060-1422_1060-1420del (GATAD1)
XR_927503.3:n.994-1422_994-1420del (GATAD1)
NM_000466.3:c.3528_3530del (PEX1) MANE Select	NP_000457.1:p.Leu1177del
NM_001282677.2:c.3357_3359del (PEX1)	NP_001269606.1:p.Leu1120del
NM_001282678.2:c.2904_2906del (PEX1)	NP_001269607.1:p.Leu969del