Canonical Allele Identifier: CA2776946329

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502216_92502217del , CM000669.2:g.92502216_92502217del	GRCh38
NC_000007.13:g.92131530_92131531del , CM000669.1:g.92131530_92131531del	GRCh37
NC_000007.12:g.91969466_91969467del	NCBI36
NG_008341.1:g.31317_31318del
NG_008341.2:g.31317_31318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-136_2227-135del MANE Select	ENSP00000248633.4:n.2227-136_2227-135del
ENST00000248633.8:c.2227-136_2227-135del	ENSP00000248633.4:n.2227-136_2227-135del
ENST00000428214.5:c.2056-136_2056-135del	ENSP00000394413.1:n.2056-136_2056-135del
ENST00000438045.5:c.1261-136_1261-135del	ENSP00000410438.1:n.1261-136_1261-135del
ENST00000484913.5:n.2266-136_2266-135del
ENST00000496092.1:n.25-136_25-135del
ENST00000496420.5:n.1903-136_1903-135del
NM_000466.2:c.2227-136_2227-135del	NP_000457.1:n.2227-136_2227-135del
NM_001282677.1:c.2056-136_2056-135del	NP_001269606.1:n.2056-136_2056-135del
NM_001282678.1:c.1603-136_1603-135del	NP_001269607.1:n.1603-136_1603-135del
XM_005250433.3:c.478-136_478-135del	XP_005250490.1:n.478-136_478-135del
XR_242246.3:n.2323-136_2323-135del
XM_017012319.2:c.478-136_478-135del	XP_016867808.1:n.478-136_478-135del
XR_001744808.2:n.1254-136_1254-135del
XR_242246.5:n.2274-136_2274-135del
NM_000466.3:c.2227-136_2227-135del MANE Select	NP_000457.1:n.2227-136_2227-135del
NM_001282677.2:c.2056-136_2056-135del	NP_001269606.1:n.2056-136_2056-135del
NM_001282678.2:c.1603-136_1603-135del	NP_001269607.1:n.1603-136_1603-135del