Canonical Allele Identifier: CA2562806831

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496437_92496438del , CM000669.2:g.92496437_92496438del	GRCh38
NC_000007.13:g.92125751_92125752del , CM000669.1:g.92125751_92125752del	GRCh37
NC_000007.12:g.91963687_91963688del	NCBI36
NG_008341.1:g.37094_37095del
NG_008341.2:g.37094_37095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+275_2783+276del MANE Select	ENSP00000248633.4:n.2783+275_2783+276del
ENST00000248633.8:c.2783+275_2783+276del	ENSP00000248633.4:n.2783+275_2783+276del
ENST00000428214.5:c.2612+275_2612+276del	ENSP00000394413.1:n.2612+275_2612+276del
ENST00000438045.5:c.1817+275_1817+276del	ENSP00000410438.1:n.1817+275_1817+276del
ENST00000484913.5:n.2822+275_2822+276del
ENST00000496420.5:n.2675+275_2675+276del
NM_000466.2:c.2783+275_2783+276del	NP_000457.1:n.2783+275_2783+276del
NM_001282677.1:c.2612+275_2612+276del	NP_001269606.1:n.2612+275_2612+276del
NM_001282678.1:c.2159+275_2159+276del	NP_001269607.1:n.2159+275_2159+276del
XM_005250433.3:c.1034+275_1034+276del	XP_005250490.1:n.1034+275_1034+276del
XR_242246.3:n.2879+275_2879+276del
XM_017012319.2:c.1034+275_1034+276del	XP_016867808.1:n.1034+275_1034+276del
XR_001744808.2:n.1810+275_1810+276del
XR_242246.5:n.2830+275_2830+276del
NM_000466.3:c.2783+275_2783+276del MANE Select	NP_000457.1:n.2783+275_2783+276del
NM_001282677.2:c.2612+275_2612+276del	NP_001269606.1:n.2612+275_2612+276del
NM_001282678.2:c.2159+275_2159+276del	NP_001269607.1:n.2159+275_2159+276del