Canonical Allele Identifier: CA576706705

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1562848215
• gnomAD v2: 7-92123767-TATAAC-T
• gnomAD v4: 7-92494453-TATAAC-T
• MyVariant Identifiers: chr7:g.92123768_92123772del (hg19) ; chr7:g.92494454_92494458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494456_92494460del , CM000669.2:g.92494456_92494460del	GRCh38
NC_000007.13:g.92123770_92123774del , CM000669.1:g.92123770_92123774del	GRCh37
NC_000007.12:g.91961706_91961710del	NCBI36
NG_008341.1:g.39074_39078del
NG_008341.2:g.39074_39078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2926+29_2926+33del (PEX1) MANE Select	ENSP00000248633.4:n.2926+29_2926+33del
ENST00000248633.8:c.2926+29_2926+33del (PEX1)	ENSP00000248633.4:n.2926+29_2926+33del
ENST00000428214.5:c.2755+29_2755+33del (PEX1)	ENSP00000394413.1:n.2755+29_2755+33del
ENST00000438045.5:c.1960+29_1960+33del (PEX1)	ENSP00000410438.1:n.1960+29_1960+33del
ENST00000484913.5:n.2965+29_2965+33del (PEX1)
ENST00000496420.5:n.2818+29_2818+33del (PEX1)
NM_000466.2:c.2926+29_2926+33del (PEX1)	NP_000457.1:n.2926+29_2926+33del
NM_001282677.1:c.2755+29_2755+33del (PEX1)	NP_001269606.1:n.2755+29_2755+33del
NM_001282678.1:c.2302+29_2302+33del (PEX1)	NP_001269607.1:n.2302+29_2302+33del
XM_005250433.3:c.1177+29_1177+33del (PEX1)	XP_005250490.1:n.1177+29_1177+33del
XR_242246.3:n.3022+29_3022+33del (PEX1)
XM_017012319.2:c.1177+29_1177+33del (PEX1)	XP_016867808.1:n.1177+29_1177+33del
XR_001744808.2:n.1953+29_1953+33del (PEX1)
XR_001744843.2:n.5425_5429del (GATAD1)
XR_242246.5:n.2973+29_2973+33del (PEX1)
XR_927494.3:n.4276_4280del (GATAD1)
XR_927503.3:n.4207_4211del (GATAD1)
NM_000466.3:c.2926+29_2926+33del (PEX1) MANE Select	NP_000457.1:n.2926+29_2926+33del
NM_001282677.2:c.2755+29_2755+33del (PEX1)	NP_001269606.1:n.2755+29_2755+33del
NM_001282678.2:c.2302+29_2302+33del (PEX1)	NP_001269607.1:n.2302+29_2302+33del