Canonical Allele Identifier: CA1725928762

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791333108

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491677_92491682del , CM000669.2:g.92491677_92491682del	GRCh38
NC_000007.13:g.92120991_92120996del , CM000669.1:g.92120991_92120996del	GRCh37
NC_000007.12:g.91958927_91958932del	NCBI36
NG_008341.1:g.41854_41859del
NG_008341.2:g.41854_41859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-176_3208-171del (PEX1) MANE Select	ENSP00000248633.4:n.3208-176_3208-171del
ENST00000248633.8:c.3208-176_3208-171del (PEX1)	ENSP00000248633.4:n.3208-176_3208-171del
ENST00000428214.5:c.3037-176_3037-171del (PEX1)	ENSP00000394413.1:n.3037-176_3037-171del
ENST00000438045.5:c.2242-176_2242-171del (PEX1)	ENSP00000410438.1:n.2242-176_2242-171del
ENST00000484913.5:n.3247-176_3247-171del (PEX1)
ENST00000496420.5:n.4263-176_4263-171del (PEX1)
NM_000466.2:c.3208-176_3208-171del (PEX1)	NP_000457.1:n.3208-176_3208-171del
NM_001282677.1:c.3037-176_3037-171del (PEX1)	NP_001269606.1:n.3037-176_3037-171del
NM_001282678.1:c.2584-176_2584-171del (PEX1)	NP_001269607.1:n.2584-176_2584-171del
XM_005250433.3:c.1459-176_1459-171del (PEX1)	XP_005250490.1:n.1459-176_1459-171del
XR_242246.3:n.3304-176_3304-171del (PEX1)
XM_017012319.2:c.1459-176_1459-171del (PEX1)	XP_016867808.1:n.1459-176_1459-171del
XR_001744808.2:n.2235-176_2235-171del (PEX1)
XR_001744842.2:n.2715_2720del (GATAD1)
XR_001744843.2:n.2646_2651del (GATAD1)
XR_002956472.1:n.2772_2777del (GATAD1)
XR_002956473.1:n.2803_2808del (GATAD1)
XR_002956474.1:n.2720_2725del (GATAD1)
XR_242246.5:n.3255-176_3255-171del (PEX1)
XR_927494.3:n.1497_1502del (GATAD1)
XR_927500.3:n.1494_1499del (GATAD1)
XR_927503.3:n.1428_1433del (GATAD1)
NM_000466.3:c.3208-176_3208-171del (PEX1) MANE Select	NP_000457.1:n.3208-176_3208-171del
NM_001282677.2:c.3037-176_3037-171del (PEX1)	NP_001269606.1:n.3037-176_3037-171del
NM_001282678.2:c.2584-176_2584-171del (PEX1)	NP_001269607.1:n.2584-176_2584-171del