Canonical Allele Identifier: CA1725928414

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791307658

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491393_92491394insTA , CM000669.2:g.92491393_92491394insTA	GRCh38
NC_000007.13:g.92120707_92120708insTA , CM000669.1:g.92120707_92120708insTA	GRCh37
NC_000007.12:g.91958643_91958644insTA	NCBI36
NG_008341.1:g.42138_42139insTA
NG_008341.2:g.42138_42139insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3316_3317insTA (PEX1) MANE Select	ENSP00000248633.4:p.Gln1106LeufsTer7
ENST00000248633.8:c.3316_3317insTA (PEX1)	ENSP00000248633.4:p.Gln1106LeufsTer7
ENST00000428214.5:c.3145_3146insTA (PEX1)	ENSP00000394413.1:p.Gln1049LeufsTer7
ENST00000438045.5:c.2350_2351insTA (PEX1)	ENSP00000410438.1:p.Gln784LeufsTer7
ENST00000484913.5:n.3355_3356insTA (PEX1)
ENST00000496420.5:n.4371_4372insTA (PEX1)
NM_000466.2:c.3316_3317insTA (PEX1)	NP_000457.1:p.Gln1106LeufsTer7
NM_001282677.1:c.3145_3146insTA (PEX1)	NP_001269606.1:p.Gln1049LeufsTer7
NM_001282678.1:c.2692_2693insTA (PEX1)	NP_001269607.1:p.Gln898LeufsTer7
XM_005250433.3:c.1567_1568insTA (PEX1)	XP_005250490.1:p.Gln523LeufsTer7
XR_242246.3:n.3412_3413insTA (PEX1)
XM_017012319.2:c.1567_1568insTA (PEX1)	XP_016867808.1:p.Gln523LeufsTer7
XR_001744808.2:n.2343_2344insTA (PEX1)
XR_001744842.2:n.2431_2432insTA (GATAD1)
XR_001744843.2:n.2362_2363insTA (GATAD1)
XR_002956472.1:n.2488_2489insTA (GATAD1)
XR_002956473.1:n.2519_2520insTA (GATAD1)
XR_002956474.1:n.2436_2437insTA (GATAD1)
XR_242246.5:n.3363_3364insTA (PEX1)
XR_927494.3:n.1213_1214insTA (GATAD1)
XR_927500.3:n.1210_1211insTA (GATAD1)
XR_927503.3:n.1144_1145insTA (GATAD1)
NM_000466.3:c.3316_3317insTA (PEX1) MANE Select	NP_000457.1:p.Gln1106LeufsTer7
NM_001282677.2:c.3145_3146insTA (PEX1)	NP_001269606.1:p.Gln1049LeufsTer7
NM_001282678.2:c.2692_2693insTA (PEX1)	NP_001269607.1:p.Gln898LeufsTer7