Canonical Allele Identifier: CA2683717977

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92494509-CAACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494510_92494513del , CM000669.2:g.92494510_92494513del	GRCh38
NC_000007.13:g.92123824_92123827del , CM000669.1:g.92123824_92123827del	GRCh37
NC_000007.12:g.91961760_91961763del	NCBI36
NG_008341.1:g.39019_39022del
NG_008341.2:g.39019_39022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2900_2903del (PEX1) MANE Select	ENSP00000248633.4:p.Gln967ArgfsTer4
ENST00000248633.8:c.2900_2903del (PEX1)	ENSP00000248633.4:p.Gln967ArgfsTer4
ENST00000428214.5:c.2729_2732del (PEX1)	ENSP00000394413.1:p.Gln910ArgfsTer4
ENST00000438045.5:c.1934_1937del (PEX1)	ENSP00000410438.1:p.Gln645ArgfsTer4
ENST00000484913.5:n.2939_2942del (PEX1)
ENST00000496420.5:n.2792_2795del (PEX1)
NM_000466.2:c.2900_2903del (PEX1)	NP_000457.1:p.Gln967ArgfsTer4
NM_001282677.1:c.2729_2732del (PEX1)	NP_001269606.1:p.Gln910ArgfsTer4
NM_001282678.1:c.2276_2279del (PEX1)	NP_001269607.1:p.Gln759ArgfsTer4
XM_005250433.3:c.1151_1154del (PEX1)	XP_005250490.1:p.Gln384ArgfsTer4
XR_242246.3:n.2996_2999del (PEX1)
XM_017012319.2:c.1151_1154del (PEX1)	XP_016867808.1:p.Gln384ArgfsTer4
XR_001744808.2:n.1927_1930del (PEX1)
XR_001744843.2:n.5479_5482del (GATAD1)
XR_242246.5:n.2947_2950del (PEX1)
XR_927494.3:n.4330_4333del (GATAD1)
XR_927503.3:n.4261_4264del (GATAD1)
NM_000466.3:c.2900_2903del (PEX1) MANE Select	NP_000457.1:p.Gln967ArgfsTer4
NM_001282677.2:c.2729_2732del (PEX1)	NP_001269606.1:p.Gln910ArgfsTer4
NM_001282678.2:c.2276_2279del (PEX1)	NP_001269607.1:p.Gln759ArgfsTer4