Canonical Allele Identifier: CA2776945574

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491554_92491557del , CM000669.2:g.92491554_92491557del	GRCh38
NC_000007.13:g.92120868_92120871del , CM000669.1:g.92120868_92120871del	GRCh37
NC_000007.12:g.91958804_91958807del	NCBI36
NG_008341.1:g.41975_41978del
NG_008341.2:g.41975_41978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-55_3208-52del (PEX1) MANE Select	ENSP00000248633.4:n.3208-55_3208-52del
ENST00000248633.8:c.3208-55_3208-52del (PEX1)	ENSP00000248633.4:n.3208-55_3208-52del
ENST00000428214.5:c.3037-55_3037-52del (PEX1)	ENSP00000394413.1:n.3037-55_3037-52del
ENST00000438045.5:c.2242-55_2242-52del (PEX1)	ENSP00000410438.1:n.2242-55_2242-52del
ENST00000484913.5:n.3247-55_3247-52del (PEX1)
ENST00000496420.5:n.4263-55_4263-52del (PEX1)
NM_000466.2:c.3208-55_3208-52del (PEX1)	NP_000457.1:n.3208-55_3208-52del
NM_001282677.1:c.3037-55_3037-52del (PEX1)	NP_001269606.1:n.3037-55_3037-52del
NM_001282678.1:c.2584-55_2584-52del (PEX1)	NP_001269607.1:n.2584-55_2584-52del
XM_005250433.3:c.1459-55_1459-52del (PEX1)	XP_005250490.1:n.1459-55_1459-52del
XR_242246.3:n.3304-55_3304-52del (PEX1)
XM_017012319.2:c.1459-55_1459-52del (PEX1)	XP_016867808.1:n.1459-55_1459-52del
XR_001744808.2:n.2235-55_2235-52del (PEX1)
XR_001744842.2:n.2592_2595del (GATAD1)
XR_001744843.2:n.2523_2526del (GATAD1)
XR_002956472.1:n.2649_2652del (GATAD1)
XR_002956473.1:n.2680_2683del (GATAD1)
XR_002956474.1:n.2597_2600del (GATAD1)
XR_242246.5:n.3255-55_3255-52del (PEX1)
XR_927494.3:n.1374_1377del (GATAD1)
XR_927500.3:n.1371_1374del (GATAD1)
XR_927503.3:n.1305_1308del (GATAD1)
NM_000466.3:c.3208-55_3208-52del (PEX1) MANE Select	NP_000457.1:n.3208-55_3208-52del
NM_001282677.2:c.3037-55_3037-52del (PEX1)	NP_001269606.1:n.3037-55_3037-52del
NM_001282678.2:c.2584-55_2584-52del (PEX1)	NP_001269607.1:n.2584-55_2584-52del