Canonical Allele Identifier: CA2776945572

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491552_92491554del , CM000669.2:g.92491552_92491554del	GRCh38
NC_000007.13:g.92120866_92120868del , CM000669.1:g.92120866_92120868del	GRCh37
NC_000007.12:g.91958802_91958804del	NCBI36
NG_008341.1:g.41978_41980del
NG_008341.2:g.41978_41980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-52_3208-50del (PEX1) MANE Select	ENSP00000248633.4:n.3208-52_3208-50del
ENST00000248633.8:c.3208-52_3208-50del (PEX1)	ENSP00000248633.4:n.3208-52_3208-50del
ENST00000428214.5:c.3037-52_3037-50del (PEX1)	ENSP00000394413.1:n.3037-52_3037-50del
ENST00000438045.5:c.2242-52_2242-50del (PEX1)	ENSP00000410438.1:n.2242-52_2242-50del
ENST00000484913.5:n.3247-52_3247-50del (PEX1)
ENST00000496420.5:n.4263-52_4263-50del (PEX1)
NM_000466.2:c.3208-52_3208-50del (PEX1)	NP_000457.1:n.3208-52_3208-50del
NM_001282677.1:c.3037-52_3037-50del (PEX1)	NP_001269606.1:n.3037-52_3037-50del
NM_001282678.1:c.2584-52_2584-50del (PEX1)	NP_001269607.1:n.2584-52_2584-50del
XM_005250433.3:c.1459-52_1459-50del (PEX1)	XP_005250490.1:n.1459-52_1459-50del
XR_242246.3:n.3304-52_3304-50del (PEX1)
XM_017012319.2:c.1459-52_1459-50del (PEX1)	XP_016867808.1:n.1459-52_1459-50del
XR_001744808.2:n.2235-52_2235-50del (PEX1)
XR_001744842.2:n.2590_2592del (GATAD1)
XR_001744843.2:n.2521_2523del (GATAD1)
XR_002956472.1:n.2647_2649del (GATAD1)
XR_002956473.1:n.2678_2680del (GATAD1)
XR_002956474.1:n.2595_2597del (GATAD1)
XR_242246.5:n.3255-52_3255-50del (PEX1)
XR_927494.3:n.1372_1374del (GATAD1)
XR_927500.3:n.1369_1371del (GATAD1)
XR_927503.3:n.1303_1305del (GATAD1)
NM_000466.3:c.3208-52_3208-50del (PEX1) MANE Select	NP_000457.1:n.3208-52_3208-50del
NM_001282677.2:c.3037-52_3037-50del (PEX1)	NP_001269606.1:n.3037-52_3037-50del
NM_001282678.2:c.2584-52_2584-50del (PEX1)	NP_001269607.1:n.2584-52_2584-50del