Canonical Allele Identifier: CA2573052931

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs2116059968

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491458_92491467del , CM000669.2:g.92491458_92491467del	GRCh38
NC_000007.13:g.92120772_92120781del , CM000669.1:g.92120772_92120781del	GRCh37
NC_000007.12:g.91958708_91958717del	NCBI36
NG_008341.1:g.42070_42079del
NG_008341.2:g.42070_42079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3248_3257del (PEX1) MANE Select	ENSP00000248633.4:p.Ser1083PhefsTer19
ENST00000248633.8:c.3248_3257del (PEX1)	ENSP00000248633.4:p.Ser1083PhefsTer19
ENST00000428214.5:c.3077_3086del (PEX1)	ENSP00000394413.1:p.Ser1026PhefsTer19
ENST00000438045.5:c.2282_2291del (PEX1)	ENSP00000410438.1:p.Ser761PhefsTer19
ENST00000484913.5:n.3287_3296del (PEX1)
ENST00000496420.5:n.4303_4312del (PEX1)
NM_000466.2:c.3248_3257del (PEX1)	NP_000457.1:p.Ser1083PhefsTer19
NM_001282677.1:c.3077_3086del (PEX1)	NP_001269606.1:p.Ser1026PhefsTer19
NM_001282678.1:c.2624_2633del (PEX1)	NP_001269607.1:p.Ser875PhefsTer19
XM_005250433.3:c.1499_1508del (PEX1)	XP_005250490.1:p.Ser500PhefsTer19
XR_242246.3:n.3344_3353del (PEX1)
XM_017012319.2:c.1499_1508del (PEX1)	XP_016867808.1:p.Ser500PhefsTer19
XR_001744808.2:n.2275_2284del (PEX1)
XR_001744842.2:n.2496_2505del (GATAD1)
XR_001744843.2:n.2427_2436del (GATAD1)
XR_002956472.1:n.2553_2562del (GATAD1)
XR_002956473.1:n.2584_2593del (GATAD1)
XR_002956474.1:n.2501_2510del (GATAD1)
XR_242246.5:n.3295_3304del (PEX1)
XR_927494.3:n.1278_1287del (GATAD1)
XR_927500.3:n.1275_1284del (GATAD1)
XR_927503.3:n.1209_1218del (GATAD1)
NM_000466.3:c.3248_3257del (PEX1) MANE Select	NP_000457.1:p.Ser1083PhefsTer19
NM_001282677.2:c.3077_3086del (PEX1)	NP_001269606.1:p.Ser1026PhefsTer19
NM_001282678.2:c.2624_2633del (PEX1)	NP_001269607.1:p.Ser875PhefsTer19