Canonical Allele Identifier: CA576706724

Gene: PEX1

Linked Data

• dbSNP Id: rs1279062685
• gnomAD v2: 7-92131361-TATTAC-T
• gnomAD v4: 7-92502047-TATTAC-T
• MyVariant Identifiers: chr7:g.92131362_92131366del (hg19) ; chr7:g.92502048_92502052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502054_92502058del , CM000669.2:g.92502054_92502058del	GRCh38
NC_000007.13:g.92131368_92131372del , CM000669.1:g.92131368_92131372del	GRCh37
NC_000007.12:g.91969304_91969308del	NCBI36
NG_008341.1:g.31480_31484del
NG_008341.2:g.31480_31484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2254_2258del MANE Select	ENSP00000248633.4:p.Val752LysfsTer3
ENST00000248633.8:c.2254_2258del	ENSP00000248633.4:p.Val752LysfsTer3
ENST00000428214.5:c.2083_2087del	ENSP00000394413.1:p.Val695LysfsTer3
ENST00000438045.5:c.1288_1292del	ENSP00000410438.1:p.Val430LysfsTer3
ENST00000484913.5:n.2293_2297del
ENST00000496092.1:n.52_56del
ENST00000496420.5:n.1930_1934del
NM_000466.2:c.2254_2258del	NP_000457.1:p.Val752LysfsTer3
NM_001282677.1:c.2083_2087del	NP_001269606.1:p.Val695LysfsTer3
NM_001282678.1:c.1630_1634del	NP_001269607.1:p.Val544LysfsTer3
XM_005250433.3:c.505_509del	XP_005250490.1:p.Val169LysfsTer3
XR_242246.3:n.2350_2354del
XM_017012319.2:c.505_509del	XP_016867808.1:p.Val169LysfsTer3
XR_001744808.2:n.1281_1285del
XR_242246.5:n.2301_2305del
NM_000466.3:c.2254_2258del MANE Select	NP_000457.1:p.Val752LysfsTer3
NM_001282677.2:c.2083_2087del	NP_001269606.1:p.Val695LysfsTer3
NM_001282678.2:c.1630_1634del	NP_001269607.1:p.Val544LysfsTer3