Canonical Allele Identifier: CA2776945565

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491538_92491540del , CM000669.2:g.92491538_92491540del	GRCh38
NC_000007.13:g.92120852_92120854del , CM000669.1:g.92120852_92120854del	GRCh37
NC_000007.12:g.91958788_91958790del	NCBI36
NG_008341.1:g.41992_41994del
NG_008341.2:g.41992_41994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-38_3208-36del (PEX1) MANE Select	ENSP00000248633.4:n.3208-38_3208-36del
ENST00000248633.8:c.3208-38_3208-36del (PEX1)	ENSP00000248633.4:n.3208-38_3208-36del
ENST00000428214.5:c.3037-38_3037-36del (PEX1)	ENSP00000394413.1:n.3037-38_3037-36del
ENST00000438045.5:c.2242-38_2242-36del (PEX1)	ENSP00000410438.1:n.2242-38_2242-36del
ENST00000484913.5:n.3247-38_3247-36del (PEX1)
ENST00000496420.5:n.4263-38_4263-36del (PEX1)
NM_000466.2:c.3208-38_3208-36del (PEX1)	NP_000457.1:n.3208-38_3208-36del
NM_001282677.1:c.3037-38_3037-36del (PEX1)	NP_001269606.1:n.3037-38_3037-36del
NM_001282678.1:c.2584-38_2584-36del (PEX1)	NP_001269607.1:n.2584-38_2584-36del
XM_005250433.3:c.1459-38_1459-36del (PEX1)	XP_005250490.1:n.1459-38_1459-36del
XR_242246.3:n.3304-38_3304-36del (PEX1)
XM_017012319.2:c.1459-38_1459-36del (PEX1)	XP_016867808.1:n.1459-38_1459-36del
XR_001744808.2:n.2235-38_2235-36del (PEX1)
XR_001744842.2:n.2576_2578del (GATAD1)
XR_001744843.2:n.2507_2509del (GATAD1)
XR_002956472.1:n.2633_2635del (GATAD1)
XR_002956473.1:n.2664_2666del (GATAD1)
XR_002956474.1:n.2581_2583del (GATAD1)
XR_242246.5:n.3255-38_3255-36del (PEX1)
XR_927494.3:n.1358_1360del (GATAD1)
XR_927500.3:n.1355_1357del (GATAD1)
XR_927503.3:n.1289_1291del (GATAD1)
NM_000466.3:c.3208-38_3208-36del (PEX1) MANE Select	NP_000457.1:n.3208-38_3208-36del
NM_001282677.2:c.3037-38_3037-36del (PEX1)	NP_001269606.1:n.3037-38_3037-36del
NM_001282678.2:c.2584-38_2584-36del (PEX1)	NP_001269607.1:n.2584-38_2584-36del