Canonical Allele Identifier: CA2683717846

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494088-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494090_92494091del , CM000669.2:g.92494090_92494091del	GRCh38
NC_000007.13:g.92123404_92123405del , CM000669.1:g.92123404_92123405del	GRCh37
NC_000007.12:g.91961340_91961341del	NCBI36
NG_008341.1:g.39442_39443del
NG_008341.2:g.39442_39443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+203_3030+204del (PEX1) MANE Select	ENSP00000248633.4:n.3030+203_3030+204del
ENST00000248633.8:c.3030+203_3030+204del (PEX1)	ENSP00000248633.4:n.3030+203_3030+204del
ENST00000428214.5:c.2859+203_2859+204del (PEX1)	ENSP00000394413.1:n.2859+203_2859+204del
ENST00000438045.5:c.2064+203_2064+204del (PEX1)	ENSP00000410438.1:n.2064+203_2064+204del
ENST00000484913.5:n.3069+203_3069+204del (PEX1)
ENST00000496420.5:n.3125_3126del (PEX1)
NM_000466.2:c.3030+203_3030+204del (PEX1)	NP_000457.1:n.3030+203_3030+204del
NM_001282677.1:c.2859+203_2859+204del (PEX1)	NP_001269606.1:n.2859+203_2859+204del
NM_001282678.1:c.2406+203_2406+204del (PEX1)	NP_001269607.1:n.2406+203_2406+204del
XM_005250433.3:c.1281+203_1281+204del (PEX1)	XP_005250490.1:n.1281+203_1281+204del
XR_242246.3:n.3126+203_3126+204del (PEX1)
XM_017012319.2:c.1281+203_1281+204del (PEX1)	XP_016867808.1:n.1281+203_1281+204del
XR_001744808.2:n.2057+203_2057+204del (PEX1)
XR_001744843.2:n.5059_5060del (GATAD1)
XR_242246.5:n.3077+203_3077+204del (PEX1)
XR_927494.3:n.3910_3911del (GATAD1)
XR_927503.3:n.3841_3842del (GATAD1)
NM_000466.3:c.3030+203_3030+204del (PEX1) MANE Select	NP_000457.1:n.3030+203_3030+204del
NM_001282677.2:c.2859+203_2859+204del (PEX1)	NP_001269606.1:n.2859+203_2859+204del
NM_001282678.2:c.2406+203_2406+204del (PEX1)	NP_001269607.1:n.2406+203_2406+204del