Canonical Allele Identifier: CA843845025

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1458866500
• gnomAD v3: 7-92491556-GAAAT-G
• gnomAD v4: 7-92491556-GAAAT-G
• MyVariant Identifiers: chr7:g.92120871_92120874del (hg19) ; chr7:g.92491557_92491560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491563_92491566del , CM000669.2:g.92491563_92491566del	GRCh38
NC_000007.13:g.92120877_92120880del , CM000669.1:g.92120877_92120880del	GRCh37
NC_000007.12:g.91958813_91958816del	NCBI36
NG_008341.1:g.41972_41975del
NG_008341.2:g.41972_41975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-58_3208-55del (PEX1) MANE Select	ENSP00000248633.4:n.3208-58_3208-55del
ENST00000248633.8:c.3208-58_3208-55del (PEX1)	ENSP00000248633.4:n.3208-58_3208-55del
ENST00000428214.5:c.3037-58_3037-55del (PEX1)	ENSP00000394413.1:n.3037-58_3037-55del
ENST00000438045.5:c.2242-58_2242-55del (PEX1)	ENSP00000410438.1:n.2242-58_2242-55del
ENST00000484913.5:n.3247-58_3247-55del (PEX1)
ENST00000496420.5:n.4263-58_4263-55del (PEX1)
NM_000466.2:c.3208-58_3208-55del (PEX1)	NP_000457.1:n.3208-58_3208-55del
NM_001282677.1:c.3037-58_3037-55del (PEX1)	NP_001269606.1:n.3037-58_3037-55del
NM_001282678.1:c.2584-58_2584-55del (PEX1)	NP_001269607.1:n.2584-58_2584-55del
XM_005250433.3:c.1459-58_1459-55del (PEX1)	XP_005250490.1:n.1459-58_1459-55del
XR_242246.3:n.3304-58_3304-55del (PEX1)
XM_017012319.2:c.1459-58_1459-55del (PEX1)	XP_016867808.1:n.1459-58_1459-55del
XR_001744808.2:n.2235-58_2235-55del (PEX1)
XR_001744842.2:n.2601_2604del (GATAD1)
XR_001744843.2:n.2532_2535del (GATAD1)
XR_002956472.1:n.2658_2661del (GATAD1)
XR_002956473.1:n.2689_2692del (GATAD1)
XR_002956474.1:n.2606_2609del (GATAD1)
XR_242246.5:n.3255-58_3255-55del (PEX1)
XR_927494.3:n.1383_1386del (GATAD1)
XR_927500.3:n.1380_1383del (GATAD1)
XR_927503.3:n.1314_1317del (GATAD1)
NM_000466.3:c.3208-58_3208-55del (PEX1) MANE Select	NP_000457.1:n.3208-58_3208-55del
NM_001282677.2:c.3037-58_3037-55del (PEX1)	NP_001269606.1:n.3037-58_3037-55del
NM_001282678.2:c.2584-58_2584-55del (PEX1)	NP_001269607.1:n.2584-58_2584-55del