Canonical Allele Identifier: CA2776945611

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491645_92491646insAGA , CM000669.2:g.92491645_92491646insAGA	GRCh38
NC_000007.13:g.92120959_92120960insAGA , CM000669.1:g.92120959_92120960insAGA	GRCh37
NC_000007.12:g.91958895_91958896insAGA	NCBI36
NG_008341.1:g.41886_41887insTCT
NG_008341.2:g.41886_41887insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-144_3208-143insTCT (PEX1) MANE Select	ENSP00000248633.4:n.3208-144_3208-143insTCT
ENST00000248633.8:c.3208-144_3208-143insTCT (PEX1)	ENSP00000248633.4:n.3208-144_3208-143insTCT
ENST00000428214.5:c.3037-144_3037-143insTCT (PEX1)	ENSP00000394413.1:n.3037-144_3037-143insTCT
ENST00000438045.5:c.2242-144_2242-143insTCT (PEX1)	ENSP00000410438.1:n.2242-144_2242-143insTCT
ENST00000484913.5:n.3247-144_3247-143insTCT (PEX1)
ENST00000496420.5:n.4263-144_4263-143insTCT (PEX1)
NM_000466.2:c.3208-144_3208-143insTCT (PEX1)	NP_000457.1:n.3208-144_3208-143insTCT
NM_001282677.1:c.3037-144_3037-143insTCT (PEX1)	NP_001269606.1:n.3037-144_3037-143insTCT
NM_001282678.1:c.2584-144_2584-143insTCT (PEX1)	NP_001269607.1:n.2584-144_2584-143insTCT
XM_005250433.3:c.1459-144_1459-143insTCT (PEX1)	XP_005250490.1:n.1459-144_1459-143insTCT
XR_242246.3:n.3304-144_3304-143insTCT (PEX1)
XM_017012319.2:c.1459-144_1459-143insTCT (PEX1)	XP_016867808.1:n.1459-144_1459-143insTCT
XR_001744808.2:n.2235-144_2235-143insTCT (PEX1)
XR_001744842.2:n.2683_2684insAGA (GATAD1)
XR_001744843.2:n.2614_2615insAGA (GATAD1)
XR_002956472.1:n.2740_2741insAGA (GATAD1)
XR_002956473.1:n.2771_2772insAGA (GATAD1)
XR_002956474.1:n.2688_2689insAGA (GATAD1)
XR_242246.5:n.3255-144_3255-143insTCT (PEX1)
XR_927494.3:n.1465_1466insAGA (GATAD1)
XR_927500.3:n.1462_1463insAGA (GATAD1)
XR_927503.3:n.1396_1397insAGA (GATAD1)
NM_000466.3:c.3208-144_3208-143insTCT (PEX1) MANE Select	NP_000457.1:n.3208-144_3208-143insTCT
NM_001282677.2:c.3037-144_3037-143insTCT (PEX1)	NP_001269606.1:n.3037-144_3037-143insTCT
NM_001282678.2:c.2584-144_2584-143insTCT (PEX1)	NP_001269607.1:n.2584-144_2584-143insTCT