Canonical Allele Identifier: CA2683717820

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494060-TCCCCAATCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494063_92494072del , CM000669.2:g.92494063_92494072del	GRCh38
NC_000007.13:g.92123377_92123386del , CM000669.1:g.92123377_92123386del	GRCh37
NC_000007.12:g.91961313_91961322del	NCBI36
NG_008341.1:g.39462_39471del
NG_008341.2:g.39462_39471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+223_3030+232del (PEX1) MANE Select	ENSP00000248633.4:n.3030+223_3030+232del
ENST00000248633.8:c.3030+223_3030+232del (PEX1)	ENSP00000248633.4:n.3030+223_3030+232del
ENST00000428214.5:c.2859+223_2859+232del (PEX1)	ENSP00000394413.1:n.2859+223_2859+232del
ENST00000438045.5:c.2064+223_2064+232del (PEX1)	ENSP00000410438.1:n.2064+223_2064+232del
ENST00000484913.5:n.3069+223_3069+232del (PEX1)
ENST00000496420.5:n.3145_3154del (PEX1)
NM_000466.2:c.3030+223_3030+232del (PEX1)	NP_000457.1:n.3030+223_3030+232del
NM_001282677.1:c.2859+223_2859+232del (PEX1)	NP_001269606.1:n.2859+223_2859+232del
NM_001282678.1:c.2406+223_2406+232del (PEX1)	NP_001269607.1:n.2406+223_2406+232del
XM_005250433.3:c.1281+223_1281+232del (PEX1)	XP_005250490.1:n.1281+223_1281+232del
XR_242246.3:n.3126+223_3126+232del (PEX1)
XM_017012319.2:c.1281+223_1281+232del (PEX1)	XP_016867808.1:n.1281+223_1281+232del
XR_001744808.2:n.2057+223_2057+232del (PEX1)
XR_001744843.2:n.5032_5041del (GATAD1)
XR_242246.5:n.3077+223_3077+232del (PEX1)
XR_927494.3:n.3883_3892del (GATAD1)
XR_927503.3:n.3814_3823del (GATAD1)
NM_000466.3:c.3030+223_3030+232del (PEX1) MANE Select	NP_000457.1:n.3030+223_3030+232del
NM_001282677.2:c.2859+223_2859+232del (PEX1)	NP_001269606.1:n.2859+223_2859+232del
NM_001282678.2:c.2406+223_2406+232del (PEX1)	NP_001269607.1:n.2406+223_2406+232del