Canonical Allele Identifier: CA2683718988

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501975-G-GTTTCTTTAGCTACAAACCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501975_92501976insTTTCTTTAGCTACAAACCCT , CM000669.2:g.92501975_92501976insTTTCTTTAGCTACAAACCCT	GRCh38
NC_000007.13:g.92131289_92131290insTTTCTTTAGCTACAAACCCT , CM000669.1:g.92131289_92131290insTTTCTTTAGCTACAAACCCT	GRCh37
NC_000007.12:g.91969225_91969226insTTTCTTTAGCTACAAACCCT	NCBI36
NG_008341.1:g.31556_31557insAGGGTTTGTAGCTAAAGAAA
NG_008341.2:g.31556_31557insAGGGTTTGTAGCTAAAGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2330_2331insAGGGTTTGTAGCTAAAGAAA MANE Select	ENSP00000248633.4:p.Arg782LysfsTer?
ENST00000248633.8:c.2330_2331insAGGGTTTGTAGCTAAAGAAA	ENSP00000248633.4:p.Arg782LysfsTer?
ENST00000428214.5:c.2159_2160insAGGGTTTGTAGCTAAAGAAA	ENSP00000394413.1:p.Arg725LysfsTer?
ENST00000438045.5:c.1364_1365insAGGGTTTGTAGCTAAAGAAA	ENSP00000410438.1:p.Arg460LysfsTer?
ENST00000484913.5:n.2369_2370insAGGGTTTGTAGCTAAAGAAA
ENST00000496092.1:n.128_129insAGGGTTTGTAGCTAAAGAAA
ENST00000496420.5:n.2006_2007insAGGGTTTGTAGCTAAAGAAA
NM_000466.2:c.2330_2331insAGGGTTTGTAGCTAAAGAAA	NP_000457.1:p.Arg782LysfsTer?
NM_001282677.1:c.2159_2160insAGGGTTTGTAGCTAAAGAAA	NP_001269606.1:p.Arg725LysfsTer?
NM_001282678.1:c.1706_1707insAGGGTTTGTAGCTAAAGAAA	NP_001269607.1:p.Arg574LysfsTer?
XM_005250433.3:c.581_582insAGGGTTTGTAGCTAAAGAAA	XP_005250490.1:p.Arg199LysfsTer?
XR_242246.3:n.2426_2427insAGGGTTTGTAGCTAAAGAAA
XM_017012319.2:c.581_582insAGGGTTTGTAGCTAAAGAAA	XP_016867808.1:p.Arg199LysfsTer?
XR_001744808.2:n.1357_1358insAGGGTTTGTAGCTAAAGAAA
XR_242246.5:n.2377_2378insAGGGTTTGTAGCTAAAGAAA
NM_000466.3:c.2330_2331insAGGGTTTGTAGCTAAAGAAA MANE Select	NP_000457.1:p.Arg782LysfsTer?
NM_001282677.2:c.2159_2160insAGGGTTTGTAGCTAAAGAAA	NP_001269606.1:p.Arg725LysfsTer?
NM_001282678.2:c.1706_1707insAGGGTTTGTAGCTAAAGAAA	NP_001269607.1:p.Arg574LysfsTer?