Canonical Allele Identifier: CA1104487702

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs199791843
• gnomAD v3: 7-92493969-GTT-G
• gnomAD v4: 7-92493969-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493978_92493979del , CM000669.2:g.92493978_92493979del	GRCh38
NC_000007.13:g.92123292_92123293del , CM000669.1:g.92123292_92123293del	GRCh37
NC_000007.12:g.91961228_91961229del	NCBI36
NG_008341.1:g.39561_39562del
NG_008341.2:g.39561_39562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+322_3030+323del (PEX1) MANE Select	ENSP00000248633.4:n.3030+322_3030+323del
ENST00000248633.8:c.3030+322_3030+323del (PEX1)	ENSP00000248633.4:n.3030+322_3030+323del
ENST00000428214.5:c.2859+322_2859+323del (PEX1)	ENSP00000394413.1:n.2859+322_2859+323del
ENST00000438045.5:c.2064+322_2064+323del (PEX1)	ENSP00000410438.1:n.2064+322_2064+323del
ENST00000484913.5:n.3069+322_3069+323del (PEX1)
ENST00000496420.5:n.3244_3245del (PEX1)
NM_000466.2:c.3030+322_3030+323del (PEX1)	NP_000457.1:n.3030+322_3030+323del
NM_001282677.1:c.2859+322_2859+323del (PEX1)	NP_001269606.1:n.2859+322_2859+323del
NM_001282678.1:c.2406+322_2406+323del (PEX1)	NP_001269607.1:n.2406+322_2406+323del
XM_005250433.3:c.1281+322_1281+323del (PEX1)	XP_005250490.1:n.1281+322_1281+323del
XR_242246.3:n.3126+322_3126+323del (PEX1)
XM_017012319.2:c.1281+322_1281+323del (PEX1)	XP_016867808.1:n.1281+322_1281+323del
XR_001744808.2:n.2057+322_2057+323del (PEX1)
XR_001744843.2:n.4947_4948del (GATAD1)
XR_242246.5:n.3077+322_3077+323del (PEX1)
XR_927494.3:n.3798_3799del (GATAD1)
XR_927503.3:n.3729_3730del (GATAD1)
NM_000466.3:c.3030+322_3030+323del (PEX1) MANE Select	NP_000457.1:n.3030+322_3030+323del
NM_001282677.2:c.2859+322_2859+323del (PEX1)	NP_001269606.1:n.2859+322_2859+323del
NM_001282678.2:c.2406+322_2406+323del (PEX1)	NP_001269607.1:n.2406+322_2406+323del