Canonical Allele Identifier: CA1725928724

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491628_92491632delinsCATTA , CM000669.2:g.92491628_92491632delinsCATTA	GRCh38
NC_000007.13:g.92120942_92120946delinsCATTA , CM000669.1:g.92120942_92120946delinsCATTA	GRCh37
NC_000007.12:g.91958878_91958882delinsCATTA	NCBI36
NG_008341.1:g.41900_41904delinsTAATG
NG_008341.2:g.41900_41904delinsTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-130_3208-126delinsTAATG (PEX1) MANE Select	ENSP00000248633.4:n.3208-130_3208-126delinsTAATG
ENST00000248633.8:c.3208-130_3208-126delinsTAATG (PEX1)	ENSP00000248633.4:n.3208-130_3208-126delinsTAATG
ENST00000428214.5:c.3037-130_3037-126delinsTAATG (PEX1)	ENSP00000394413.1:n.3037-130_3037-126delinsTAATG
ENST00000438045.5:c.2242-130_2242-126delinsTAATG (PEX1)	ENSP00000410438.1:n.2242-130_2242-126delinsTAATG
ENST00000484913.5:n.3247-130_3247-126delinsTAATG (PEX1)
ENST00000496420.5:n.4263-130_4263-126delinsTAATG (PEX1)
NM_000466.2:c.3208-130_3208-126delinsTAATG (PEX1)	NP_000457.1:n.3208-130_3208-126delinsTAATG
NM_001282677.1:c.3037-130_3037-126delinsTAATG (PEX1)	NP_001269606.1:n.3037-130_3037-126delinsTAATG
NM_001282678.1:c.2584-130_2584-126delinsTAATG (PEX1)	NP_001269607.1:n.2584-130_2584-126delinsTAATG
XM_005250433.3:c.1459-130_1459-126delinsTAATG (PEX1)	XP_005250490.1:n.1459-130_1459-126delinsTAATG
XR_242246.3:n.3304-130_3304-126delinsTAATG (PEX1)
XM_017012319.2:c.1459-130_1459-126delinsTAATG (PEX1)	XP_016867808.1:n.1459-130_1459-126delinsTAATG
XR_001744808.2:n.2235-130_2235-126delinsTAATG (PEX1)
XR_001744842.2:n.2666_2670delinsCATTA (GATAD1)
XR_001744843.2:n.2597_2601delinsCATTA (GATAD1)
XR_002956472.1:n.2723_2727delinsCATTA (GATAD1)
XR_002956473.1:n.2754_2758delinsCATTA (GATAD1)
XR_002956474.1:n.2671_2675delinsCATTA (GATAD1)
XR_242246.5:n.3255-130_3255-126delinsTAATG (PEX1)
XR_927494.3:n.1448_1452delinsCATTA (GATAD1)
XR_927500.3:n.1445_1449delinsCATTA (GATAD1)
XR_927503.3:n.1379_1383delinsCATTA (GATAD1)
NM_000466.3:c.3208-130_3208-126delinsTAATG (PEX1) MANE Select	NP_000457.1:n.3208-130_3208-126delinsTAATG
NM_001282677.2:c.3037-130_3037-126delinsTAATG (PEX1)	NP_001269606.1:n.3037-130_3037-126delinsTAATG
NM_001282678.2:c.2584-130_2584-126delinsTAATG (PEX1)	NP_001269607.1:n.2584-130_2584-126delinsTAATG