Canonical Allele Identifier: CA538251

Gene: PEX10

Linked Data

• dbSNP Id: rs763663936
• ExAC: 1:2340311 GATGGGT / G
• gnomAD v2: 1-2340311-GATGGGT-G
• gnomAD v4: 1-2408872-GATGGGT-G
• MyVariant Identifiers: chr1:g.2340312_2340317del (hg19) ; chr1:g.2408873_2408878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408876_2408881del , CM000663.2:g.2408876_2408881del	GRCh38
NC_000001.10:g.2340315_2340320del , CM000663.1:g.2340315_2340320del	GRCh37
NC_000001.9:g.2330175_2330180del	NCBI36
NG_008342.1:g.8694_8699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.194-20_194-15del	ENSP00000288774.3:n.194-20_194-15del
ENST00000447513.7:c.194-20_194-15del MANE Select	ENSP00000407922.2:n.194-20_194-15del
ENST00000650293.1:c.148-20_148-15del
ENST00000288774.7:c.194-20_194-15del	ENSP00000288774.3:n.194-20_194-15del
ENST00000447513.6:c.194-20_194-15del	ENSP00000407922.2:n.194-20_194-15del
ENST00000502666.1:c.399-20_399-15del	ENSP00000461951.1:n.399-20_399-15del
ENST00000507596.5:c.194-20_194-15del	ENSP00000424291.1:n.194-20_194-15del
ENST00000508384.5:c.-239-20_-239-15del	ENSP00000464289.1:n.-239-20_-239-15del
ENST00000510434.1:c.194-20_194-15del	ENSP00000423051.1:n.194-20_194-15del
ENST00000514502.1:c.*211-20_*211-15del	ENSP00000425924.1:n.*211-20_*211-15del
ENST00000515760.1:n.328-20_328-15del
NM_002617.3:c.194-20_194-15del	NP_002608.1:n.194-20_194-15del
NM_153818.1:c.194-20_194-15del	NP_722540.1:n.194-20_194-15del
XM_011541573.1:c.194-20_194-15del	XP_011539875.1:n.194-20_194-15del
XM_011541574.1:c.-239-20_-239-15del	XP_011539876.1:n.-239-20_-239-15del
XM_011541575.1:c.-239-20_-239-15del	XP_011539877.1:n.-239-20_-239-15del
XM_011541576.1:c.194-20_194-15del	XP_011539878.1:n.194-20_194-15del
XR_946666.1:n.314-20_314-15del
XM_011541576.2:c.194-20_194-15del	XP_011539878.1:n.194-20_194-15del
XR_946666.2:n.263-20_263-15del
NM_001374425.1:c.194-20_194-15del	NP_001361354.1:n.194-20_194-15del
NM_001374426.1:c.-239-20_-239-15del	NP_001361355.1:n.-239-20_-239-15del
NM_001374427.1:c.-239-20_-239-15del	NP_001361356.1:n.-239-20_-239-15del
NM_002617.4:c.194-20_194-15del MANE Select	NP_002608.1:n.194-20_194-15del
NM_153818.2:c.194-20_194-15del	NP_722540.1:n.194-20_194-15del
NR_164636.1:n.313-20_313-15del