Canonical Allele Identifier: CA2695204496

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503182_92503184del , CM000669.2:g.92503182_92503184del	GRCh38
NC_000007.13:g.92132496_92132498del , CM000669.1:g.92132496_92132498del	GRCh37
NC_000007.12:g.91970432_91970434del	NCBI36
NG_008341.1:g.30350_30352del
NG_008341.2:g.30350_30352del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2085_2087del MANE Select	ENSP00000248633.4:p.Met695del
ENST00000248633.8:c.2085_2087del	ENSP00000248633.4:p.Met695del
ENST00000428214.5:c.1914_1916del	ENSP00000394413.1:p.Met638del
ENST00000438045.5:c.1119_1121del	ENSP00000410438.1:p.Met373del
ENST00000484913.5:n.2124_2126del
ENST00000496420.5:n.1761_1763del
NM_000466.2:c.2085_2087del	NP_000457.1:p.Met695del
NM_001282677.1:c.1914_1916del	NP_001269606.1:p.Met638del
NM_001282678.1:c.1461_1463del	NP_001269607.1:p.Met487del
XM_005250433.3:c.336_338del	XP_005250490.1:p.Met112del
XR_242246.3:n.2181_2183del
XM_017012319.2:c.336_338del	XP_016867808.1:p.Met112del
XR_001744808.2:n.1112_1114del
XR_242246.5:n.2132_2134del
NM_000466.3:c.2085_2087del MANE Select	NP_000457.1:p.Met695del
NM_001282677.2:c.1914_1916del	NP_001269606.1:p.Met638del
NM_001282678.2:c.1461_1463del	NP_001269607.1:p.Met487del