Canonical Allele Identifier: CA2776945571

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491551_92491552insACA , CM000669.2:g.92491551_92491552insACA	GRCh38
NC_000007.13:g.92120865_92120866insACA , CM000669.1:g.92120865_92120866insACA	GRCh37
NC_000007.12:g.91958801_91958802insACA	NCBI36
NG_008341.1:g.41980_41981insTGT
NG_008341.2:g.41980_41981insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-50_3208-49insTGT (PEX1) MANE Select	ENSP00000248633.4:n.3208-50_3208-49insTGT
ENST00000248633.8:c.3208-50_3208-49insTGT (PEX1)	ENSP00000248633.4:n.3208-50_3208-49insTGT
ENST00000428214.5:c.3037-50_3037-49insTGT (PEX1)	ENSP00000394413.1:n.3037-50_3037-49insTGT
ENST00000438045.5:c.2242-50_2242-49insTGT (PEX1)	ENSP00000410438.1:n.2242-50_2242-49insTGT
ENST00000484913.5:n.3247-50_3247-49insTGT (PEX1)
ENST00000496420.5:n.4263-50_4263-49insTGT (PEX1)
NM_000466.2:c.3208-50_3208-49insTGT (PEX1)	NP_000457.1:n.3208-50_3208-49insTGT
NM_001282677.1:c.3037-50_3037-49insTGT (PEX1)	NP_001269606.1:n.3037-50_3037-49insTGT
NM_001282678.1:c.2584-50_2584-49insTGT (PEX1)	NP_001269607.1:n.2584-50_2584-49insTGT
XM_005250433.3:c.1459-50_1459-49insTGT (PEX1)	XP_005250490.1:n.1459-50_1459-49insTGT
XR_242246.3:n.3304-50_3304-49insTGT (PEX1)
XM_017012319.2:c.1459-50_1459-49insTGT (PEX1)	XP_016867808.1:n.1459-50_1459-49insTGT
XR_001744808.2:n.2235-50_2235-49insTGT (PEX1)
XR_001744842.2:n.2589_2590insACA (GATAD1)
XR_001744843.2:n.2520_2521insACA (GATAD1)
XR_002956472.1:n.2646_2647insACA (GATAD1)
XR_002956473.1:n.2677_2678insACA (GATAD1)
XR_002956474.1:n.2594_2595insACA (GATAD1)
XR_242246.5:n.3255-50_3255-49insTGT (PEX1)
XR_927494.3:n.1371_1372insACA (GATAD1)
XR_927500.3:n.1368_1369insACA (GATAD1)
XR_927503.3:n.1302_1303insACA (GATAD1)
NM_000466.3:c.3208-50_3208-49insTGT (PEX1) MANE Select	NP_000457.1:n.3208-50_3208-49insTGT
NM_001282677.2:c.3037-50_3037-49insTGT (PEX1)	NP_001269606.1:n.3037-50_3037-49insTGT
NM_001282678.2:c.2584-50_2584-49insTGT (PEX1)	NP_001269607.1:n.2584-50_2584-49insTGT