Canonical Allele Identifier: CA161952407

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs779270710
• gnomAD v2: 7-92119318-CAAT-C
• gnomAD v3: 7-92490004-CAAT-C
• gnomAD v4: 7-92490004-CAAT-C
• MyVariant Identifiers: chr7:g.92119319_92119321del (hg19) ; chr7:g.92490005_92490007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92490007_92490009del , CM000669.2:g.92490007_92490009del	GRCh38
NC_000007.13:g.92119321_92119323del , CM000669.1:g.92119321_92119323del	GRCh37
NC_000007.12:g.91957257_91957259del	NCBI36
NG_008341.1:g.43525_43527del
NG_008341.2:g.43525_43527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3439-96_3439-94del (PEX1) MANE Select	ENSP00000248633.4:n.3439-96_3439-94del
ENST00000248633.8:c.3439-96_3439-94del (PEX1)	ENSP00000248633.4:n.3439-96_3439-94del
ENST00000428214.5:c.3268-96_3268-94del (PEX1)	ENSP00000394413.1:n.3268-96_3268-94del
ENST00000438045.5:c.2473-96_2473-94del (PEX1)	ENSP00000410438.1:n.2473-96_2473-94del
ENST00000469417.1:n.240_242del (PEX1)
ENST00000484913.5:n.3478-96_3478-94del (PEX1)
ENST00000496420.5:n.4494-96_4494-94del (PEX1)
NM_000466.2:c.3439-96_3439-94del (PEX1)	NP_000457.1:n.3439-96_3439-94del
NM_001282677.1:c.3268-96_3268-94del (PEX1)	NP_001269606.1:n.3268-96_3268-94del
NM_001282678.1:c.2815-96_2815-94del (PEX1)	NP_001269607.1:n.2815-96_2815-94del
XM_005250433.3:c.1690-96_1690-94del (PEX1)	XP_005250490.1:n.1690-96_1690-94del
XR_242246.3:n.3535-96_3535-94del (PEX1)
XR_927494.1:n.1036-1236_1036-1234del (GATAD1)
XR_927495.1:n.1036-79_1036-77del (GATAD1)
XR_927496.1:n.1041-1236_1041-1234del (GATAD1)
XR_927497.1:n.1036-79_1036-77del (GATAD1)
XR_927498.1:n.1124-1236_1124-1234del (GATAD1)
XR_927500.1:n.1033-1236_1033-1234del (GATAD1)
XR_927502.1:n.1033-79_1033-77del (GATAD1)
XR_927503.1:n.967-1236_967-1234del (GATAD1)
XM_017012319.2:c.1690-96_1690-94del (PEX1)	XP_016867808.1:n.1690-96_1690-94del
XR_001744808.2:n.2466-96_2466-94del (PEX1)
XR_001744842.2:n.2281-1236_2281-1234del (GATAD1)
XR_001744843.2:n.2212-1236_2212-1234del (GATAD1)
XR_002956472.1:n.2281-79_2281-77del (GATAD1)
XR_002956473.1:n.2369-1236_2369-1234del (GATAD1)
XR_002956474.1:n.2286-1236_2286-1234del (GATAD1)
XR_242246.5:n.3486-96_3486-94del (PEX1)
XR_927494.3:n.1063-1236_1063-1234del (GATAD1)
XR_927500.3:n.1060-1236_1060-1234del (GATAD1)
XR_927503.3:n.994-1236_994-1234del (GATAD1)
NM_000466.3:c.3439-96_3439-94del (PEX1) MANE Select	NP_000457.1:n.3439-96_3439-94del
NM_001282677.2:c.3268-96_3268-94del (PEX1)	NP_001269606.1:n.3268-96_3268-94del
NM_001282678.2:c.2815-96_2815-94del (PEX1)	NP_001269607.1:n.2815-96_2815-94del