Canonical Allele Identifier: CA2841950900

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522065_92522088del , CM000669.2:g.92522065_92522088del	GRCh38
NC_000007.13:g.92151379_92151402del , CM000669.1:g.92151379_92151402del	GRCh37
NC_000007.12:g.91989315_91989338del	NCBI36
NG_008341.1:g.11444_11467del
NG_008341.2:g.11444_11467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.273+14_273+37del MANE Select	ENSP00000248633.4:n.273+14_273+37del
ENST00000248633.8:c.273+14_273+37del	ENSP00000248633.4:n.273+14_273+37del
ENST00000428214.5:c.273+14_273+37del	ENSP00000394413.1:n.273+14_273+37del
ENST00000438045.5:c.273+14_273+37del	ENSP00000410438.1:n.273+14_273+37del
ENST00000484913.5:n.277+14_277+37del
NM_000466.2:c.273+14_273+37del	NP_000457.1:n.273+14_273+37del
NM_001282677.1:c.273+14_273+37del	NP_001269606.1:n.273+14_273+37del
NM_001282678.1:c.-387+14_-387+37del	NP_001269607.1:n.-387+14_-387+37del
XR_242246.3:n.369+14_369+37del
XR_242246.5:n.320+14_320+37del
NM_000466.3:c.273+14_273+37del MANE Select	NP_000457.1:n.273+14_273+37del
NM_001282677.2:c.273+14_273+37del	NP_001269606.1:n.273+14_273+37del
NM_001282678.2:c.-387+14_-387+37del	NP_001269607.1:n.-387+14_-387+37del