Canonical Allele Identifier: CA1725928637

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491517_92491518delinsAG , CM000669.2:g.92491517_92491518delinsAG	GRCh38
NC_000007.13:g.92120831_92120832delinsAG , CM000669.1:g.92120831_92120832delinsAG	GRCh37
NC_000007.12:g.91958767_91958768delinsAG	NCBI36
NG_008341.1:g.42014_42015delinsCT
NG_008341.2:g.42014_42015delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-16_3208-15delinsCT (PEX1) MANE Select	ENSP00000248633.4:n.3208-16_3208-15delinsCT
ENST00000248633.8:c.3208-16_3208-15delinsCT (PEX1)	ENSP00000248633.4:n.3208-16_3208-15delinsCT
ENST00000428214.5:c.3037-16_3037-15delinsCT (PEX1)	ENSP00000394413.1:n.3037-16_3037-15delinsCT
ENST00000438045.5:c.2242-16_2242-15delinsCT (PEX1)	ENSP00000410438.1:n.2242-16_2242-15delinsCT
ENST00000484913.5:n.3247-16_3247-15delinsCT (PEX1)
ENST00000496420.5:n.4263-16_4263-15delinsCT (PEX1)
NM_000466.2:c.3208-16_3208-15delinsCT (PEX1)	NP_000457.1:n.3208-16_3208-15delinsCT
NM_001282677.1:c.3037-16_3037-15delinsCT (PEX1)	NP_001269606.1:n.3037-16_3037-15delinsCT
NM_001282678.1:c.2584-16_2584-15delinsCT (PEX1)	NP_001269607.1:n.2584-16_2584-15delinsCT
XM_005250433.3:c.1459-16_1459-15delinsCT (PEX1)	XP_005250490.1:n.1459-16_1459-15delinsCT
XR_242246.3:n.3304-16_3304-15delinsCT (PEX1)
XM_017012319.2:c.1459-16_1459-15delinsCT (PEX1)	XP_016867808.1:n.1459-16_1459-15delinsCT
XR_001744808.2:n.2235-16_2235-15delinsCT (PEX1)
XR_001744842.2:n.2555_2556delinsAG (GATAD1)
XR_001744843.2:n.2486_2487delinsAG (GATAD1)
XR_002956472.1:n.2612_2613delinsAG (GATAD1)
XR_002956473.1:n.2643_2644delinsAG (GATAD1)
XR_002956474.1:n.2560_2561delinsAG (GATAD1)
XR_242246.5:n.3255-16_3255-15delinsCT (PEX1)
XR_927494.3:n.1337_1338delinsAG (GATAD1)
XR_927500.3:n.1334_1335delinsAG (GATAD1)
XR_927503.3:n.1268_1269delinsAG (GATAD1)
NM_000466.3:c.3208-16_3208-15delinsCT (PEX1) MANE Select	NP_000457.1:n.3208-16_3208-15delinsCT
NM_001282677.2:c.3037-16_3037-15delinsCT (PEX1)	NP_001269606.1:n.3037-16_3037-15delinsCT
NM_001282678.2:c.2584-16_2584-15delinsCT (PEX1)	NP_001269607.1:n.2584-16_2584-15delinsCT