Canonical Allele Identifier: CA2683719765

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517170-CTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517171_92517175del , CM000669.2:g.92517171_92517175del	GRCh38
NC_000007.13:g.92146485_92146489del , CM000669.1:g.92146485_92146489del	GRCh37
NC_000007.12:g.91984421_91984425del	NCBI36
NG_008341.1:g.16357_16361del
NG_008341.2:g.16357_16361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1239+101_1239+105del MANE Select	ENSP00000248633.4:n.1239+101_1239+105del
ENST00000248633.8:c.1239+101_1239+105del	ENSP00000248633.4:n.1239+101_1239+105del
ENST00000422866.1:c.140+101_140+105del
ENST00000428214.5:c.1239+101_1239+105del	ENSP00000394413.1:n.1239+101_1239+105del
ENST00000438045.5:c.274-3208_274-3204del	ENSP00000410438.1:n.274-3208_274-3204del
ENST00000484913.5:n.1278+101_1278+105del
NM_000466.2:c.1239+101_1239+105del	NP_000457.1:n.1239+101_1239+105del
NM_001282677.1:c.1239+101_1239+105del	NP_001269606.1:n.1239+101_1239+105del
NM_001282678.1:c.615+101_615+105del	NP_001269607.1:n.615+101_615+105del
XR_242246.3:n.1335+101_1335+105del
XM_017012319.2:c.-428+101_-428+105del	XP_016867808.1:n.-428+101_-428+105del
XR_001744808.2:n.349+101_349+105del
XR_242246.5:n.1286+101_1286+105del
NM_000466.3:c.1239+101_1239+105del MANE Select	NP_000457.1:n.1239+101_1239+105del
NM_001282677.2:c.1239+101_1239+105del	NP_001269606.1:n.1239+101_1239+105del
NM_001282678.2:c.615+101_615+105del	NP_001269607.1:n.615+101_615+105del