Canonical Allele Identifier: CA1725928706

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791327658
• gnomAD v4: 7-92491604-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491605_92491606del , CM000669.2:g.92491605_92491606del	GRCh38
NC_000007.13:g.92120919_92120920del , CM000669.1:g.92120919_92120920del	GRCh37
NC_000007.12:g.91958855_91958856del	NCBI36
NG_008341.1:g.41926_41927del
NG_008341.2:g.41926_41927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-104_3208-103del (PEX1) MANE Select	ENSP00000248633.4:n.3208-104_3208-103del
ENST00000248633.8:c.3208-104_3208-103del (PEX1)	ENSP00000248633.4:n.3208-104_3208-103del
ENST00000428214.5:c.3037-104_3037-103del (PEX1)	ENSP00000394413.1:n.3037-104_3037-103del
ENST00000438045.5:c.2242-104_2242-103del (PEX1)	ENSP00000410438.1:n.2242-104_2242-103del
ENST00000484913.5:n.3247-104_3247-103del (PEX1)
ENST00000496420.5:n.4263-104_4263-103del (PEX1)
NM_000466.2:c.3208-104_3208-103del (PEX1)	NP_000457.1:n.3208-104_3208-103del
NM_001282677.1:c.3037-104_3037-103del (PEX1)	NP_001269606.1:n.3037-104_3037-103del
NM_001282678.1:c.2584-104_2584-103del (PEX1)	NP_001269607.1:n.2584-104_2584-103del
XM_005250433.3:c.1459-104_1459-103del (PEX1)	XP_005250490.1:n.1459-104_1459-103del
XR_242246.3:n.3304-104_3304-103del (PEX1)
XM_017012319.2:c.1459-104_1459-103del (PEX1)	XP_016867808.1:n.1459-104_1459-103del
XR_001744808.2:n.2235-104_2235-103del (PEX1)
XR_001744842.2:n.2643_2644del (GATAD1)
XR_001744843.2:n.2574_2575del (GATAD1)
XR_002956472.1:n.2700_2701del (GATAD1)
XR_002956473.1:n.2731_2732del (GATAD1)
XR_002956474.1:n.2648_2649del (GATAD1)
XR_242246.5:n.3255-104_3255-103del (PEX1)
XR_927494.3:n.1425_1426del (GATAD1)
XR_927500.3:n.1422_1423del (GATAD1)
XR_927503.3:n.1356_1357del (GATAD1)
NM_000466.3:c.3208-104_3208-103del (PEX1) MANE Select	NP_000457.1:n.3208-104_3208-103del
NM_001282677.2:c.3037-104_3037-103del (PEX1)	NP_001269606.1:n.3037-104_3037-103del
NM_001282678.2:c.2584-104_2584-103del (PEX1)	NP_001269607.1:n.2584-104_2584-103del