Canonical Allele Identifier: CA1725926758

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791156694

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489557_92489565del , CM000669.2:g.92489557_92489565del	GRCh38
NC_000007.13:g.92118871_92118879del , CM000669.1:g.92118871_92118879del	GRCh37
NC_000007.12:g.91956807_91956815del	NCBI36
NG_008341.1:g.43969_43977del
NG_008341.2:g.43969_43977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-140_3637-132del (PEX1) MANE Select	ENSP00000248633.4:n.3637-140_3637-132del
ENST00000248633.8:c.3637-140_3637-132del (PEX1)	ENSP00000248633.4:n.3637-140_3637-132del
ENST00000428214.5:c.3466-140_3466-132del (PEX1)	ENSP00000394413.1:n.3466-140_3466-132del
ENST00000438045.5:c.2671-140_2671-132del (PEX1)	ENSP00000410438.1:n.2671-140_2671-132del
ENST00000469417.1:n.534-140_534-132del (PEX1)
ENST00000477342.1:n.232_240del (PEX1)
ENST00000484913.5:n.3676-140_3676-132del (PEX1)
ENST00000496420.5:n.4687-140_4687-132del (PEX1)
NM_000466.2:c.3637-140_3637-132del (PEX1)	NP_000457.1:n.3637-140_3637-132del
NM_001282677.1:c.3466-140_3466-132del (PEX1)	NP_001269606.1:n.3466-140_3466-132del
NM_001282678.1:c.3013-140_3013-132del (PEX1)	NP_001269607.1:n.3013-140_3013-132del
XM_005250433.3:c.1888-140_1888-132del (PEX1)	XP_005250490.1:n.1888-140_1888-132del
XR_242246.3:n.3728-140_3728-132del (PEX1)
XR_927494.1:n.1036-1686_1036-1678del (GATAD1)
XR_927495.1:n.1036-529_1036-521del (GATAD1)
XR_927496.1:n.1041-1686_1041-1678del (GATAD1)
XR_927497.1:n.1036-529_1036-521del (GATAD1)
XR_927498.1:n.1124-1686_1124-1678del (GATAD1)
XR_927500.1:n.1033-1686_1033-1678del (GATAD1)
XR_927502.1:n.1033-529_1033-521del (GATAD1)
XR_927503.1:n.967-1686_967-1678del (GATAD1)
XM_017012319.2:c.1888-140_1888-132del (PEX1)	XP_016867808.1:n.1888-140_1888-132del
XR_001744808.2:n.2659-140_2659-132del (PEX1)
XR_001744842.2:n.2281-1686_2281-1678del (GATAD1)
XR_001744843.2:n.2212-1686_2212-1678del (GATAD1)
XR_002956472.1:n.2281-529_2281-521del (GATAD1)
XR_002956473.1:n.2369-1686_2369-1678del (GATAD1)
XR_002956474.1:n.2286-1686_2286-1678del (GATAD1)
XR_242246.5:n.3679-140_3679-132del (PEX1)
XR_927494.3:n.1063-1686_1063-1678del (GATAD1)
XR_927500.3:n.1060-1686_1060-1678del (GATAD1)
XR_927503.3:n.994-1686_994-1678del (GATAD1)
NM_000466.3:c.3637-140_3637-132del (PEX1) MANE Select	NP_000457.1:n.3637-140_3637-132del
NM_001282677.2:c.3466-140_3466-132del (PEX1)	NP_001269606.1:n.3466-140_3466-132del
NM_001282678.2:c.3013-140_3013-132del (PEX1)	NP_001269607.1:n.3013-140_3013-132del