Canonical Allele Identifier: CA4340813

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 371774
• ClinVar RCV Id: RCV000409356 ; RCV000410489 ; RCV000998838 ; RCV001209618 ; RCV003475989
• dbSNP Id: rs759183382
• ExAC: 7:92119207 CAG / C
• gnomAD v2: 7-92119207-CAG-C
• gnomAD v3: 7-92489893-CAG-C
• gnomAD v4: 7-92489893-CAG-C
• MyVariant Identifiers: chr7:g.92119208_92119209del (hg19) ; chr7:g.92489894_92489895del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489899_92489900del , CM000669.2:g.92489899_92489900del	GRCh38
NC_000007.13:g.92119213_92119214del , CM000669.1:g.92119213_92119214del	GRCh37
NC_000007.12:g.91957149_91957150del	NCBI36
NG_008341.1:g.43637_43638del
NG_008341.2:g.43637_43638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3455_3456del (PEX1) MANE Select	ENSP00000248633.4:p.Ser1152CysfsTer?
ENST00000248633.8:c.3455_3456del (PEX1)	ENSP00000248633.4:p.Ser1152CysfsTer?
ENST00000428214.5:c.3284_3285del (PEX1)	ENSP00000394413.1:p.Ser1095CysfsTer?
ENST00000438045.5:c.2489_2490del (PEX1)	ENSP00000410438.1:p.Ser830CysfsTer?
ENST00000469417.1:n.352_353del (PEX1)
ENST00000484913.5:n.3494_3495del (PEX1)
ENST00000496420.5:n.4510_4511del (PEX1)
NM_000466.2:c.3455_3456del (PEX1)	NP_000457.1:p.Ser1152CysfsTer?
NM_001282677.1:c.3284_3285del (PEX1)	NP_001269606.1:p.Ser1095CysfsTer?
NM_001282678.1:c.2831_2832del (PEX1)	NP_001269607.1:p.Ser944CysfsTer?
XM_005250433.3:c.1706_1707del (PEX1)	XP_005250490.1:p.Ser569CysfsTer?
XR_242246.3:n.3551_3552del (PEX1)
XR_927494.1:n.1036-1344_1036-1343del (GATAD1)
XR_927495.1:n.1036-187_1036-186del (GATAD1)
XR_927496.1:n.1041-1344_1041-1343del (GATAD1)
XR_927497.1:n.1036-187_1036-186del (GATAD1)
XR_927498.1:n.1124-1344_1124-1343del (GATAD1)
XR_927500.1:n.1033-1344_1033-1343del (GATAD1)
XR_927502.1:n.1033-187_1033-186del (GATAD1)
XR_927503.1:n.967-1344_967-1343del (GATAD1)
XM_017012319.2:c.1706_1707del (PEX1)	XP_016867808.1:p.Ser569CysfsTer?
XR_001744808.2:n.2482_2483del (PEX1)
XR_001744842.2:n.2281-1344_2281-1343del (GATAD1)
XR_001744843.2:n.2212-1344_2212-1343del (GATAD1)
XR_002956472.1:n.2281-187_2281-186del (GATAD1)
XR_002956473.1:n.2369-1344_2369-1343del (GATAD1)
XR_002956474.1:n.2286-1344_2286-1343del (GATAD1)
XR_242246.5:n.3502_3503del (PEX1)
XR_927494.3:n.1063-1344_1063-1343del (GATAD1)
XR_927500.3:n.1060-1344_1060-1343del (GATAD1)
XR_927503.3:n.994-1344_994-1343del (GATAD1)
NM_000466.3:c.3455_3456del (PEX1) MANE Select	NP_000457.1:p.Ser1152CysfsTer?
NM_001282677.2:c.3284_3285del (PEX1)	NP_001269606.1:p.Ser1095CysfsTer?
NM_001282678.2:c.2831_2832del (PEX1)	NP_001269607.1:p.Ser944CysfsTer?