Canonical Allele Identifier: CA2776946091
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499944_92499945insACT , CM000669.2:g.92499944_92499945insACT GRCh38
NC_000007.13:g.92129258_92129259insACT , CM000669.1:g.92129258_92129259insACT GRCh37
NC_000007.12:g.91967194_91967195insACT NCBI36
NG_008341.1:g.33587_33588insAGT
NG_008341.2:g.33587_33588insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2584-107_2584-106insAGT MANE Select ENSP00000248633.4:n.2584-107_2584-106insAGT
ENST00000248633.8:c.2584-107_2584-106insAGT ENSP00000248633.4:n.2584-107_2584-106insAGT
ENST00000428214.5:c.2413-107_2413-106insAGT ENSP00000394413.1:n.2413-107_2413-106insAGT
ENST00000438045.5:c.1618-107_1618-106insAGT ENSP00000410438.1:n.1618-107_1618-106insAGT
ENST00000484913.5:n.2623-107_2623-106insAGT
ENST00000496420.5:n.2476-107_2476-106insAGT
NM_000466.2:c.2584-107_2584-106insAGT NP_000457.1:n.2584-107_2584-106insAGT
NM_001282677.1:c.2413-107_2413-106insAGT NP_001269606.1:n.2413-107_2413-106insAGT
NM_001282678.1:c.1960-107_1960-106insAGT NP_001269607.1:n.1960-107_1960-106insAGT
XM_005250433.3:c.835-107_835-106insAGT XP_005250490.1:n.835-107_835-106insAGT
XR_242246.3:n.2680-107_2680-106insAGT
XM_017012319.2:c.835-107_835-106insAGT XP_016867808.1:n.835-107_835-106insAGT
XR_001744808.2:n.1611-107_1611-106insAGT
XR_242246.5:n.2631-107_2631-106insAGT
NM_000466.3:c.2584-107_2584-106insAGT MANE Select NP_000457.1:n.2584-107_2584-106insAGT
NM_001282677.2:c.2413-107_2413-106insAGT NP_001269606.1:n.2413-107_2413-106insAGT
NM_001282678.2:c.1960-107_1960-106insAGT NP_001269607.1:n.1960-107_1960-106insAGT