Canonical Allele Identifier: CA4340843

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs763614661
• ExAC: 7:92120649 C / CAT
• gnomAD v2: 7-92120649-C-CAT
• gnomAD v4: 7-92491335-C-CAT
• MyVariant Identifiers: chr7:g.92120649_92120650insAT (hg19) ; chr7:g.92491335_92491336insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491338_92491339dup , CM000669.2:g.92491338_92491339dup	GRCh38
NC_000007.13:g.92120652_92120653dup , CM000669.1:g.92120652_92120653dup	GRCh37
NC_000007.12:g.91958588_91958589dup	NCBI36
NG_008341.1:g.42195_42196dup
NG_008341.2:g.42195_42196dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3373_3374dup (PEX1) MANE Select	ENSP00000248633.4:p.Met1125IlefsTer23
ENST00000248633.8:c.3373_3374dup (PEX1)	ENSP00000248633.4:p.Met1125IlefsTer23
ENST00000428214.5:c.3202_3203dup (PEX1)	ENSP00000394413.1:p.Met1068IlefsTer23
ENST00000438045.5:c.2407_2408dup (PEX1)	ENSP00000410438.1:p.Met803IlefsTer23
ENST00000484913.5:n.3412_3413dup (PEX1)
ENST00000496420.5:n.4428_4429dup (PEX1)
NM_000466.2:c.3373_3374dup (PEX1)	NP_000457.1:p.Met1125IlefsTer23
NM_001282677.1:c.3202_3203dup (PEX1)	NP_001269606.1:p.Met1068IlefsTer23
NM_001282678.1:c.2749_2750dup (PEX1)	NP_001269607.1:p.Met917IlefsTer23
XM_005250433.3:c.1624_1625dup (PEX1)	XP_005250490.1:p.Met542IlefsTer23
XR_242246.3:n.3469_3470dup (PEX1)
XM_017012319.2:c.1624_1625dup (PEX1)	XP_016867808.1:p.Met542IlefsTer23
XR_001744808.2:n.2400_2401dup (PEX1)
XR_001744842.2:n.2376_2377dup (GATAD1)
XR_001744843.2:n.2307_2308dup (GATAD1)
XR_002956472.1:n.2433_2434dup (GATAD1)
XR_002956473.1:n.2464_2465dup (GATAD1)
XR_002956474.1:n.2381_2382dup (GATAD1)
XR_242246.5:n.3420_3421dup (PEX1)
XR_927494.3:n.1158_1159dup (GATAD1)
XR_927500.3:n.1155_1156dup (GATAD1)
XR_927503.3:n.1089_1090dup (GATAD1)
NM_000466.3:c.3373_3374dup (PEX1) MANE Select	NP_000457.1:p.Met1125IlefsTer23
NM_001282677.2:c.3202_3203dup (PEX1)	NP_001269606.1:p.Met1068IlefsTer23
NM_001282678.2:c.2749_2750dup (PEX1)	NP_001269607.1:p.Met917IlefsTer23