Canonical Allele Identifier: CA2776945591

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491589_92491602del , CM000669.2:g.92491589_92491602del	GRCh38
NC_000007.13:g.92120903_92120916del , CM000669.1:g.92120903_92120916del	GRCh37
NC_000007.12:g.91958839_91958852del	NCBI36
NG_008341.1:g.41931_41944del
NG_008341.2:g.41931_41944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-99_3208-86del (PEX1) MANE Select	ENSP00000248633.4:n.3208-99_3208-86del
ENST00000248633.8:c.3208-99_3208-86del (PEX1)	ENSP00000248633.4:n.3208-99_3208-86del
ENST00000428214.5:c.3037-99_3037-86del (PEX1)	ENSP00000394413.1:n.3037-99_3037-86del
ENST00000438045.5:c.2242-99_2242-86del (PEX1)	ENSP00000410438.1:n.2242-99_2242-86del
ENST00000484913.5:n.3247-99_3247-86del (PEX1)
ENST00000496420.5:n.4263-99_4263-86del (PEX1)
NM_000466.2:c.3208-99_3208-86del (PEX1)	NP_000457.1:n.3208-99_3208-86del
NM_001282677.1:c.3037-99_3037-86del (PEX1)	NP_001269606.1:n.3037-99_3037-86del
NM_001282678.1:c.2584-99_2584-86del (PEX1)	NP_001269607.1:n.2584-99_2584-86del
XM_005250433.3:c.1459-99_1459-86del (PEX1)	XP_005250490.1:n.1459-99_1459-86del
XR_242246.3:n.3304-99_3304-86del (PEX1)
XM_017012319.2:c.1459-99_1459-86del (PEX1)	XP_016867808.1:n.1459-99_1459-86del
XR_001744808.2:n.2235-99_2235-86del (PEX1)
XR_001744842.2:n.2627_2640del (GATAD1)
XR_001744843.2:n.2558_2571del (GATAD1)
XR_002956472.1:n.2684_2697del (GATAD1)
XR_002956473.1:n.2715_2728del (GATAD1)
XR_002956474.1:n.2632_2645del (GATAD1)
XR_242246.5:n.3255-99_3255-86del (PEX1)
XR_927494.3:n.1409_1422del (GATAD1)
XR_927500.3:n.1406_1419del (GATAD1)
XR_927503.3:n.1340_1353del (GATAD1)
NM_000466.3:c.3208-99_3208-86del (PEX1) MANE Select	NP_000457.1:n.3208-99_3208-86del
NM_001282677.2:c.3037-99_3037-86del (PEX1)	NP_001269606.1:n.3037-99_3037-86del
NM_001282678.2:c.2584-99_2584-86del (PEX1)	NP_001269607.1:n.2584-99_2584-86del