Canonical Allele Identifier: CA538146

Gene: PEX10

Linked Data

• dbSNP Id: rs760694123
• ExAC: 1:2339977 CGAGGCCCTGTCTGAGGACGAA / C
• gnomAD v2: 1-2339977-CGAGGCCCTGTCTGAGGACGAA-C
• gnomAD v4: 1-2408538-CGAGGCCCTGTCTGAGGACGAA-C
• MyVariant Identifiers: chr1:g.2339978_2339998del (hg19) ; chr1:g.2408539_2408559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408541_2408561del , CM000663.2:g.2408541_2408561del	GRCh38
NC_000001.10:g.2339980_2340000del , CM000663.1:g.2339980_2340000del	GRCh37
NC_000001.9:g.2329840_2329860del	NCBI36
NG_008342.1:g.9013_9033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.493_513del	ENSP00000288774.3:p.Phe165_Leu171del
ENST00000447513.7:c.493_513del MANE Select	ENSP00000407922.2:p.Phe165_Leu171del
ENST00000650293.1:c.447_467del
ENST00000288774.7:c.493_513del	ENSP00000288774.3:p.Phe165_Leu171del
ENST00000447513.6:c.493_513del	ENSP00000407922.2:p.Phe165_Leu171del
ENST00000507596.5:c.493_513del	ENSP00000424291.1:p.Phe165_Leu171del
ENST00000508384.5:c.61_81del	ENSP00000464289.1:p.Phe21_Leu27del
ENST00000510434.1:c.493_513del	ENSP00000423051.1:p.Phe165_Leu171del
NM_002617.3:c.493_513del	NP_002608.1:p.Phe165_Leu171del
NM_153818.1:c.493_513del	NP_722540.1:p.Phe165_Leu171del
XM_011541573.1:c.493_513del	XP_011539875.1:p.Phe165_Leu171del
XM_011541574.1:c.61_81del	XP_011539876.1:p.Phe21_Leu27del
XM_011541575.1:c.61_81del	XP_011539877.1:p.Phe21_Leu27del
XM_011541576.1:c.493_513del	XP_011539878.1:p.Phe165_Leu171del
XR_946666.1:n.613_633del
XM_011541576.2:c.493_513del	XP_011539878.1:p.Phe165_Leu171del
XR_946666.2:n.562_582del
NM_001374425.1:c.493_513del	NP_001361354.1:p.Phe165_Leu171del
NM_001374426.1:c.61_81del	NP_001361355.1:p.Phe21_Leu27del
NM_001374427.1:c.61_81del	NP_001361356.1:p.Phe21_Leu27del
NM_002617.4:c.493_513del MANE Select	NP_002608.1:p.Phe165_Leu171del
NM_153818.2:c.493_513del	NP_722540.1:p.Phe165_Leu171del
NR_164636.1:n.612_632del