Canonical Allele Identifier: CA2683717170

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491628-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491630_92491632del , CM000669.2:g.92491630_92491632del	GRCh38
NC_000007.13:g.92120944_92120946del , CM000669.1:g.92120944_92120946del	GRCh37
NC_000007.12:g.91958880_91958882del	NCBI36
NG_008341.1:g.41901_41903del
NG_008341.2:g.41901_41903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-129_3208-127del (PEX1) MANE Select	ENSP00000248633.4:n.3208-129_3208-127del
ENST00000248633.8:c.3208-129_3208-127del (PEX1)	ENSP00000248633.4:n.3208-129_3208-127del
ENST00000428214.5:c.3037-129_3037-127del (PEX1)	ENSP00000394413.1:n.3037-129_3037-127del
ENST00000438045.5:c.2242-129_2242-127del (PEX1)	ENSP00000410438.1:n.2242-129_2242-127del
ENST00000484913.5:n.3247-129_3247-127del (PEX1)
ENST00000496420.5:n.4263-129_4263-127del (PEX1)
NM_000466.2:c.3208-129_3208-127del (PEX1)	NP_000457.1:n.3208-129_3208-127del
NM_001282677.1:c.3037-129_3037-127del (PEX1)	NP_001269606.1:n.3037-129_3037-127del
NM_001282678.1:c.2584-129_2584-127del (PEX1)	NP_001269607.1:n.2584-129_2584-127del
XM_005250433.3:c.1459-129_1459-127del (PEX1)	XP_005250490.1:n.1459-129_1459-127del
XR_242246.3:n.3304-129_3304-127del (PEX1)
XM_017012319.2:c.1459-129_1459-127del (PEX1)	XP_016867808.1:n.1459-129_1459-127del
XR_001744808.2:n.2235-129_2235-127del (PEX1)
XR_001744842.2:n.2668_2670del (GATAD1)
XR_001744843.2:n.2599_2601del (GATAD1)
XR_002956472.1:n.2725_2727del (GATAD1)
XR_002956473.1:n.2756_2758del (GATAD1)
XR_002956474.1:n.2673_2675del (GATAD1)
XR_242246.5:n.3255-129_3255-127del (PEX1)
XR_927494.3:n.1450_1452del (GATAD1)
XR_927500.3:n.1447_1449del (GATAD1)
XR_927503.3:n.1381_1383del (GATAD1)
NM_000466.3:c.3208-129_3208-127del (PEX1) MANE Select	NP_000457.1:n.3208-129_3208-127del
NM_001282677.2:c.3037-129_3037-127del (PEX1)	NP_001269606.1:n.3037-129_3037-127del
NM_001282678.2:c.2584-129_2584-127del (PEX1)	NP_001269607.1:n.2584-129_2584-127del