Canonical Allele Identifier: CA2580077510

Linked Data

ClinVar Variation Id: 1724960
ClinVar RCV Id: RCV002308019

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491440_92491441insTCCTTTA , CM000669.2:g.92491440_92491441insTCCTTTA GRCh38
NC_000007.13:g.92120754_92120755insTCCTTTA , CM000669.1:g.92120754_92120755insTCCTTTA GRCh37
NC_000007.12:g.91958690_91958691insTCCTTTA NCBI36
NG_008341.1:g.42091_42092insTAAAGGA
NG_008341.2:g.42091_42092insTAAAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3269_3270insTAAAGGA (PEX1) MANE Select ENSP00000248633.4:p.Ser1091LysfsTer6
ENST00000248633.8:c.3269_3270insTAAAGGA (PEX1) ENSP00000248633.4:p.Ser1091LysfsTer6
ENST00000428214.5:c.3098_3099insTAAAGGA (PEX1) ENSP00000394413.1:p.Ser1034LysfsTer6
ENST00000438045.5:c.2303_2304insTAAAGGA (PEX1) ENSP00000410438.1:p.Ser769LysfsTer6
ENST00000484913.5:n.3308_3309insTAAAGGA (PEX1)
ENST00000496420.5:n.4324_4325insTAAAGGA (PEX1)
NM_000466.2:c.3269_3270insTAAAGGA (PEX1) NP_000457.1:p.Ser1091LysfsTer6
NM_001282677.1:c.3098_3099insTAAAGGA (PEX1) NP_001269606.1:p.Ser1034LysfsTer6
NM_001282678.1:c.2645_2646insTAAAGGA (PEX1) NP_001269607.1:p.Ser883LysfsTer6
XM_005250433.3:c.1520_1521insTAAAGGA (PEX1) XP_005250490.1:p.Ser508LysfsTer6
XR_242246.3:n.3365_3366insTAAAGGA (PEX1)
XM_017012319.2:c.1520_1521insTAAAGGA (PEX1) XP_016867808.1:p.Ser508LysfsTer6
XR_001744808.2:n.2296_2297insTAAAGGA (PEX1)
XR_001744842.2:n.2478_2479insTCCTTTA (GATAD1)
XR_001744843.2:n.2409_2410insTCCTTTA (GATAD1)
XR_002956472.1:n.2535_2536insTCCTTTA (GATAD1)
XR_002956473.1:n.2566_2567insTCCTTTA (GATAD1)
XR_002956474.1:n.2483_2484insTCCTTTA (GATAD1)
XR_242246.5:n.3316_3317insTAAAGGA (PEX1)
XR_927494.3:n.1260_1261insTCCTTTA (GATAD1)
XR_927500.3:n.1257_1258insTCCTTTA (GATAD1)
XR_927503.3:n.1191_1192insTCCTTTA (GATAD1)
NM_000466.3:c.3269_3270insTAAAGGA (PEX1) MANE Select NP_000457.1:p.Ser1091LysfsTer6
NM_001282677.2:c.3098_3099insTAAAGGA (PEX1) NP_001269606.1:p.Ser1034LysfsTer6
NM_001282678.2:c.2645_2646insTAAAGGA (PEX1) NP_001269607.1:p.Ser883LysfsTer6