Canonical Allele Identifier: CA2776946812

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506458_92506459insCCAACCCAAACACACCC , CM000669.2:g.92506458_92506459insCCAACCCAAACACACCC	GRCh38
NC_000007.13:g.92135772_92135773insCCAACCCAAACACACCC , CM000669.1:g.92135772_92135773insCCAACCCAAACACACCC	GRCh37
NC_000007.12:g.91973708_91973709insCCAACCCAAACACACCC	NCBI36
NG_008341.1:g.27073_27074insGGGTGTGTTTGGGTTGG
NG_008341.2:g.27073_27074insGGGTGTGTTTGGGTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG MANE Select	ENSP00000248633.4:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
ENST00000248633.8:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG	ENSP00000248633.4:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
ENST00000422866.1:c.622-115_622-114insGGGTGTGTTTGGGTTGG
ENST00000428214.5:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG	ENSP00000394413.1:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
ENST00000438045.5:c.838-115_838-114insGGGTGTGTTTGGGTTGG	ENSP00000410438.1:n.838-115_838-114insGGGTGTGTTTGGGTTGG
ENST00000484913.5:n.1843-115_1843-114insGGGTGTGTTTGGGTTGG
ENST00000496420.5:n.1365_1366insGGGTGTGTTTGGGTTGG
NM_000466.2:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG	NP_000457.1:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
NM_001282677.1:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG	NP_001269606.1:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
NM_001282678.1:c.1180-115_1180-114insGGGTGTGTTTGGGTTGG	NP_001269607.1:n.1180-115_1180-114insGGGTGTGTTTGGGTTGG
XM_005250433.3:c.55-115_55-114insGGGTGTGTTTGGGTTGG	XP_005250490.1:n.55-115_55-114insGGGTGTGTTTGGGTTGG
XR_242246.3:n.1900-115_1900-114insGGGTGTGTTTGGGTTGG
XM_017012319.2:c.55-115_55-114insGGGTGTGTTTGGGTTGG	XP_016867808.1:n.55-115_55-114insGGGTGTGTTTGGGTTGG
XR_001744808.2:n.831-115_831-114insGGGTGTGTTTGGGTTGG
XR_242246.5:n.1851-115_1851-114insGGGTGTGTTTGGGTTGG
NM_000466.3:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG MANE Select	NP_000457.1:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
NM_001282677.2:c.1804-115_1804-114insGGGTGTGTTTGGGTTGG	NP_001269606.1:n.1804-115_1804-114insGGGTGTGTTTGGGTTGG
NM_001282678.2:c.1180-115_1180-114insGGGTGTGTTTGGGTTGG	NP_001269607.1:n.1180-115_1180-114insGGGTGTGTTTGGGTTGG