Canonical Allele Identifier: CA2776945593

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92491604_92491605insACA , CM000669.2:g.92491604_92491605insACA GRCh38
NC_000007.13:g.92120918_92120919insACA , CM000669.1:g.92120918_92120919insACA GRCh37
NC_000007.12:g.91958854_91958855insACA NCBI36
NG_008341.1:g.41927_41928insTGT
NG_008341.2:g.41927_41928insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3208-103_3208-102insTGT (PEX1) MANE Select ENSP00000248633.4:n.3208-103_3208-102insTGT
ENST00000248633.8:c.3208-103_3208-102insTGT (PEX1) ENSP00000248633.4:n.3208-103_3208-102insTGT
ENST00000428214.5:c.3037-103_3037-102insTGT (PEX1) ENSP00000394413.1:n.3037-103_3037-102insTGT
ENST00000438045.5:c.2242-103_2242-102insTGT (PEX1) ENSP00000410438.1:n.2242-103_2242-102insTGT
ENST00000484913.5:n.3247-103_3247-102insTGT (PEX1)
ENST00000496420.5:n.4263-103_4263-102insTGT (PEX1)
NM_000466.2:c.3208-103_3208-102insTGT (PEX1) NP_000457.1:n.3208-103_3208-102insTGT
NM_001282677.1:c.3037-103_3037-102insTGT (PEX1) NP_001269606.1:n.3037-103_3037-102insTGT
NM_001282678.1:c.2584-103_2584-102insTGT (PEX1) NP_001269607.1:n.2584-103_2584-102insTGT
XM_005250433.3:c.1459-103_1459-102insTGT (PEX1) XP_005250490.1:n.1459-103_1459-102insTGT
XR_242246.3:n.3304-103_3304-102insTGT (PEX1)
XM_017012319.2:c.1459-103_1459-102insTGT (PEX1) XP_016867808.1:n.1459-103_1459-102insTGT
XR_001744808.2:n.2235-103_2235-102insTGT (PEX1)
XR_001744842.2:n.2642_2643insACA (GATAD1)
XR_001744843.2:n.2573_2574insACA (GATAD1)
XR_002956472.1:n.2699_2700insACA (GATAD1)
XR_002956473.1:n.2730_2731insACA (GATAD1)
XR_002956474.1:n.2647_2648insACA (GATAD1)
XR_242246.5:n.3255-103_3255-102insTGT (PEX1)
XR_927494.3:n.1424_1425insACA (GATAD1)
XR_927500.3:n.1421_1422insACA (GATAD1)
XR_927503.3:n.1355_1356insACA (GATAD1)
NM_000466.3:c.3208-103_3208-102insTGT (PEX1) MANE Select NP_000457.1:n.3208-103_3208-102insTGT
NM_001282677.2:c.3037-103_3037-102insTGT (PEX1) NP_001269606.1:n.3037-103_3037-102insTGT
NM_001282678.2:c.2584-103_2584-102insTGT (PEX1) NP_001269607.1:n.2584-103_2584-102insTGT