Canonical Allele Identifier: CA2776945338

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489462_92489463insACA , CM000669.2:g.92489462_92489463insACA	GRCh38
NC_000007.13:g.92118776_92118777insACA , CM000669.1:g.92118776_92118777insACA	GRCh37
NC_000007.12:g.91956712_91956713insACA	NCBI36
NG_008341.1:g.44069_44070insTGT
NG_008341.2:g.44069_44070insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3637-40_3637-39insTGT (PEX1) MANE Select	ENSP00000248633.4:n.3637-40_3637-39insTGT
ENST00000248633.8:c.3637-40_3637-39insTGT (PEX1)	ENSP00000248633.4:n.3637-40_3637-39insTGT
ENST00000428214.5:c.3466-40_3466-39insTGT (PEX1)	ENSP00000394413.1:n.3466-40_3466-39insTGT
ENST00000438045.5:c.2671-40_2671-39insTGT (PEX1)	ENSP00000410438.1:n.2671-40_2671-39insTGT
ENST00000469417.1:n.534-40_534-39insTGT (PEX1)
ENST00000477342.1:n.332_333insTGT (PEX1)
ENST00000484913.5:n.3676-40_3676-39insTGT (PEX1)
ENST00000496420.5:n.4687-40_4687-39insTGT (PEX1)
NM_000466.2:c.3637-40_3637-39insTGT (PEX1)	NP_000457.1:n.3637-40_3637-39insTGT
NM_001282677.1:c.3466-40_3466-39insTGT (PEX1)	NP_001269606.1:n.3466-40_3466-39insTGT
NM_001282678.1:c.3013-40_3013-39insTGT (PEX1)	NP_001269607.1:n.3013-40_3013-39insTGT
XM_005250433.3:c.1888-40_1888-39insTGT (PEX1)	XP_005250490.1:n.1888-40_1888-39insTGT
XR_242246.3:n.3728-40_3728-39insTGT (PEX1)
XR_927494.1:n.1036-1781_1036-1780insACA (GATAD1)
XR_927495.1:n.1036-624_1036-623insACA (GATAD1)
XR_927496.1:n.1041-1781_1041-1780insACA (GATAD1)
XR_927497.1:n.1036-624_1036-623insACA (GATAD1)
XR_927498.1:n.1124-1781_1124-1780insACA (GATAD1)
XR_927500.1:n.1033-1781_1033-1780insACA (GATAD1)
XR_927502.1:n.1033-624_1033-623insACA (GATAD1)
XR_927503.1:n.967-1781_967-1780insACA (GATAD1)
XM_017012319.2:c.1888-40_1888-39insTGT (PEX1)	XP_016867808.1:n.1888-40_1888-39insTGT
XR_001744808.2:n.2659-40_2659-39insTGT (PEX1)
XR_001744842.2:n.2281-1781_2281-1780insACA (GATAD1)
XR_001744843.2:n.2212-1781_2212-1780insACA (GATAD1)
XR_002956472.1:n.2281-624_2281-623insACA (GATAD1)
XR_002956473.1:n.2369-1781_2369-1780insACA (GATAD1)
XR_002956474.1:n.2286-1781_2286-1780insACA (GATAD1)
XR_242246.5:n.3679-40_3679-39insTGT (PEX1)
XR_927494.3:n.1063-1781_1063-1780insACA (GATAD1)
XR_927500.3:n.1060-1781_1060-1780insACA (GATAD1)
XR_927503.3:n.994-1781_994-1780insACA (GATAD1)
NM_000466.3:c.3637-40_3637-39insTGT (PEX1) MANE Select	NP_000457.1:n.3637-40_3637-39insTGT
NM_001282677.2:c.3466-40_3466-39insTGT (PEX1)	NP_001269606.1:n.3466-40_3466-39insTGT
NM_001282678.2:c.3013-40_3013-39insTGT (PEX1)	NP_001269607.1:n.3013-40_3013-39insTGT