Canonical Allele Identifier: CA2776945605

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491635_92491640del , CM000669.2:g.92491635_92491640del	GRCh38
NC_000007.13:g.92120949_92120954del , CM000669.1:g.92120949_92120954del	GRCh37
NC_000007.12:g.91958885_91958890del	NCBI36
NG_008341.1:g.41892_41897del
NG_008341.2:g.41892_41897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-138_3208-133del (PEX1) MANE Select	ENSP00000248633.4:n.3208-138_3208-133del
ENST00000248633.8:c.3208-138_3208-133del (PEX1)	ENSP00000248633.4:n.3208-138_3208-133del
ENST00000428214.5:c.3037-138_3037-133del (PEX1)	ENSP00000394413.1:n.3037-138_3037-133del
ENST00000438045.5:c.2242-138_2242-133del (PEX1)	ENSP00000410438.1:n.2242-138_2242-133del
ENST00000484913.5:n.3247-138_3247-133del (PEX1)
ENST00000496420.5:n.4263-138_4263-133del (PEX1)
NM_000466.2:c.3208-138_3208-133del (PEX1)	NP_000457.1:n.3208-138_3208-133del
NM_001282677.1:c.3037-138_3037-133del (PEX1)	NP_001269606.1:n.3037-138_3037-133del
NM_001282678.1:c.2584-138_2584-133del (PEX1)	NP_001269607.1:n.2584-138_2584-133del
XM_005250433.3:c.1459-138_1459-133del (PEX1)	XP_005250490.1:n.1459-138_1459-133del
XR_242246.3:n.3304-138_3304-133del (PEX1)
XM_017012319.2:c.1459-138_1459-133del (PEX1)	XP_016867808.1:n.1459-138_1459-133del
XR_001744808.2:n.2235-138_2235-133del (PEX1)
XR_001744842.2:n.2673_2678del (GATAD1)
XR_001744843.2:n.2604_2609del (GATAD1)
XR_002956472.1:n.2730_2735del (GATAD1)
XR_002956473.1:n.2761_2766del (GATAD1)
XR_002956474.1:n.2678_2683del (GATAD1)
XR_242246.5:n.3255-138_3255-133del (PEX1)
XR_927494.3:n.1455_1460del (GATAD1)
XR_927500.3:n.1452_1457del (GATAD1)
XR_927503.3:n.1386_1391del (GATAD1)
NM_000466.3:c.3208-138_3208-133del (PEX1) MANE Select	NP_000457.1:n.3208-138_3208-133del
NM_001282677.2:c.3037-138_3037-133del (PEX1)	NP_001269606.1:n.3037-138_3037-133del
NM_001282678.2:c.2584-138_2584-133del (PEX1)	NP_001269607.1:n.2584-138_2584-133del