Canonical Allele Identifier: CA2776945398

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489528_92489529insACA , CM000669.2:g.92489528_92489529insACA GRCh38
NC_000007.13:g.92118842_92118843insACA , CM000669.1:g.92118842_92118843insACA GRCh37
NC_000007.12:g.91956778_91956779insACA NCBI36
NG_008341.1:g.44003_44004insTGT
NG_008341.2:g.44003_44004insTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3637-106_3637-105insTGT (PEX1) MANE Select ENSP00000248633.4:n.3637-106_3637-105insTGT
ENST00000248633.8:c.3637-106_3637-105insTGT (PEX1) ENSP00000248633.4:n.3637-106_3637-105insTGT
ENST00000428214.5:c.3466-106_3466-105insTGT (PEX1) ENSP00000394413.1:n.3466-106_3466-105insTGT
ENST00000438045.5:c.2671-106_2671-105insTGT (PEX1) ENSP00000410438.1:n.2671-106_2671-105insTGT
ENST00000469417.1:n.534-106_534-105insTGT (PEX1)
ENST00000477342.1:n.266_267insTGT (PEX1)
ENST00000484913.5:n.3676-106_3676-105insTGT (PEX1)
ENST00000496420.5:n.4687-106_4687-105insTGT (PEX1)
NM_000466.2:c.3637-106_3637-105insTGT (PEX1) NP_000457.1:n.3637-106_3637-105insTGT
NM_001282677.1:c.3466-106_3466-105insTGT (PEX1) NP_001269606.1:n.3466-106_3466-105insTGT
NM_001282678.1:c.3013-106_3013-105insTGT (PEX1) NP_001269607.1:n.3013-106_3013-105insTGT
XM_005250433.3:c.1888-106_1888-105insTGT (PEX1) XP_005250490.1:n.1888-106_1888-105insTGT
XR_242246.3:n.3728-106_3728-105insTGT (PEX1)
XR_927494.1:n.1036-1715_1036-1714insACA (GATAD1)
XR_927495.1:n.1036-558_1036-557insACA (GATAD1)
XR_927496.1:n.1041-1715_1041-1714insACA (GATAD1)
XR_927497.1:n.1036-558_1036-557insACA (GATAD1)
XR_927498.1:n.1124-1715_1124-1714insACA (GATAD1)
XR_927500.1:n.1033-1715_1033-1714insACA (GATAD1)
XR_927502.1:n.1033-558_1033-557insACA (GATAD1)
XR_927503.1:n.967-1715_967-1714insACA (GATAD1)
XM_017012319.2:c.1888-106_1888-105insTGT (PEX1) XP_016867808.1:n.1888-106_1888-105insTGT
XR_001744808.2:n.2659-106_2659-105insTGT (PEX1)
XR_001744842.2:n.2281-1715_2281-1714insACA (GATAD1)
XR_001744843.2:n.2212-1715_2212-1714insACA (GATAD1)
XR_002956472.1:n.2281-558_2281-557insACA (GATAD1)
XR_002956473.1:n.2369-1715_2369-1714insACA (GATAD1)
XR_002956474.1:n.2286-1715_2286-1714insACA (GATAD1)
XR_242246.5:n.3679-106_3679-105insTGT (PEX1)
XR_927494.3:n.1063-1715_1063-1714insACA (GATAD1)
XR_927500.3:n.1060-1715_1060-1714insACA (GATAD1)
XR_927503.3:n.994-1715_994-1714insACA (GATAD1)
NM_000466.3:c.3637-106_3637-105insTGT (PEX1) MANE Select NP_000457.1:n.3637-106_3637-105insTGT
NM_001282677.2:c.3466-106_3466-105insTGT (PEX1) NP_001269606.1:n.3466-106_3466-105insTGT
NM_001282678.2:c.3013-106_3013-105insTGT (PEX1) NP_001269607.1:n.3013-106_3013-105insTGT