Canonical Allele Identifier: CA1725931228

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494408_92494410delinsAAG , CM000669.2:g.92494408_92494410delinsAAG	GRCh38
NC_000007.13:g.92123722_92123724delinsAAG , CM000669.1:g.92123722_92123724delinsAAG	GRCh37
NC_000007.12:g.91961658_91961660delinsAAG	NCBI36
NG_008341.1:g.39122_39124delinsCTT
NG_008341.2:g.39122_39124delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2927-14_2927-12delinsCTT (PEX1) MANE Select	ENSP00000248633.4:n.2927-14_2927-12delins...
ENST00000248633.8:c.2927-14_2927-12delinsCTT (PEX1)	ENSP00000248633.4:n.2927-14_2927-12delins...
ENST00000428214.5:c.2756-14_2756-12delinsCTT (PEX1)	ENSP00000394413.1:n.2756-14_2756-12delins...
ENST00000438045.5:c.1961-14_1961-12delinsCTT (PEX1)	ENSP00000410438.1:n.1961-14_1961-12delins...
ENST00000484913.5:n.2966-14_2966-12delinsCTT (PEX1)
ENST00000496420.5:n.2819-14_2819-12delinsCTT (PEX1)
NM_000466.2:c.2927-14_2927-12delinsCTT (PEX1)	NP_000457.1:n.2927-14_2927-12delinsCTT
NM_001282677.1:c.2756-14_2756-12delinsCTT (PEX1)	NP_001269606.1:n.2756-14_2756-12delinsCTT...
NM_001282678.1:c.2303-14_2303-12delinsCTT (PEX1)	NP_001269607.1:n.2303-14_2303-12delinsCTT...
XM_005250433.3:c.1178-14_1178-12delinsCTT (PEX1)	XP_005250490.1:n.1178-14_1178-12delinsCTT...
XR_242246.3:n.3023-14_3023-12delinsCTT (PEX1)
XM_017012319.2:c.1178-14_1178-12delinsCTT (PEX1)	XP_016867808.1:n.1178-14_1178-12delinsCTT...
XR_001744808.2:n.1954-14_1954-12delinsCTT (PEX1)
XR_001744843.2:n.5377_5379delinsAAG (GATAD1)
XR_242246.5:n.2974-14_2974-12delinsCTT (PEX1)
XR_927494.3:n.4228_4230delinsAAG (GATAD1)
XR_927503.3:n.4159_4161delinsAAG (GATAD1)
NM_000466.3:c.2927-14_2927-12delinsCTT (PEX1) MANE Select	NP_000457.1:n.2927-14_2927-12delinsCTT
NM_001282677.2:c.2756-14_2756-12delinsCTT (PEX1)	NP_001269606.1:n.2756-14_2756-12delinsCTT...
NM_001282678.2:c.2303-14_2303-12delinsCTT (PEX1)	NP_001269607.1:n.2303-14_2303-12delinsCTT...