Canonical Allele Identifier: CA1725930725

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs199791843

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92493977_92493979del , CM000669.2:g.92493977_92493979del	GRCh38
NC_000007.13:g.92123291_92123293del , CM000669.1:g.92123291_92123293del	GRCh37
NC_000007.12:g.91961227_91961229del	NCBI36
NG_008341.1:g.39560_39562del
NG_008341.2:g.39560_39562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+321_3030+323del (PEX1) MANE Select	ENSP00000248633.4:n.3030+321_3030+323del
ENST00000248633.8:c.3030+321_3030+323del (PEX1)	ENSP00000248633.4:n.3030+321_3030+323del
ENST00000428214.5:c.2859+321_2859+323del (PEX1)	ENSP00000394413.1:n.2859+321_2859+323del
ENST00000438045.5:c.2064+321_2064+323del (PEX1)	ENSP00000410438.1:n.2064+321_2064+323del
ENST00000484913.5:n.3069+321_3069+323del (PEX1)
ENST00000496420.5:n.3243_3245del (PEX1)
NM_000466.2:c.3030+321_3030+323del (PEX1)	NP_000457.1:n.3030+321_3030+323del
NM_001282677.1:c.2859+321_2859+323del (PEX1)	NP_001269606.1:n.2859+321_2859+323del
NM_001282678.1:c.2406+321_2406+323del (PEX1)	NP_001269607.1:n.2406+321_2406+323del
XM_005250433.3:c.1281+321_1281+323del (PEX1)	XP_005250490.1:n.1281+321_1281+323del
XR_242246.3:n.3126+321_3126+323del (PEX1)
XM_017012319.2:c.1281+321_1281+323del (PEX1)	XP_016867808.1:n.1281+321_1281+323del
XR_001744808.2:n.2057+321_2057+323del (PEX1)
XR_001744843.2:n.4946_4948del (GATAD1)
XR_242246.5:n.3077+321_3077+323del (PEX1)
XR_927494.3:n.3797_3799del (GATAD1)
XR_927503.3:n.3728_3730del (GATAD1)
NM_000466.3:c.3030+321_3030+323del (PEX1) MANE Select	NP_000457.1:n.3030+321_3030+323del
NM_001282677.2:c.2859+321_2859+323del (PEX1)	NP_001269606.1:n.2859+321_2859+323del
NM_001282678.2:c.2406+321_2406+323del (PEX1)	NP_001269607.1:n.2406+321_2406+323del