Canonical Allele Identifier: CA2776947276

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511052_92511056del , CM000669.2:g.92511052_92511056del	GRCh38
NC_000007.13:g.92140366_92140370del , CM000669.1:g.92140366_92140370del	GRCh37
NC_000007.12:g.91978302_91978306del	NCBI36
NG_008341.1:g.22476_22480del
NG_008341.2:g.22476_22480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-9_1484-5del MANE Select	ENSP00000248633.4:n.1484-9_1484-5del
ENST00000248633.8:c.1484-9_1484-5del	ENSP00000248633.4:n.1484-9_1484-5del
ENST00000422866.1:c.385-9_385-5del
ENST00000428214.5:c.1484-9_1484-5del	ENSP00000394413.1:n.1484-9_1484-5del
ENST00000438045.5:c.518-9_518-5del	ENSP00000410438.1:n.518-9_518-5del
ENST00000476923.1:n.245-9_245-5del
ENST00000484913.5:n.1523-9_1523-5del
NM_000466.2:c.1484-9_1484-5del	NP_000457.1:n.1484-9_1484-5del
NM_001282677.1:c.1484-9_1484-5del	NP_001269606.1:n.1484-9_1484-5del
NM_001282678.1:c.860-9_860-5del	NP_001269607.1:n.860-9_860-5del
XM_005250433.3:c.-183-9_-183-5del	XP_005250490.1:n.-183-9_-183-5del
XR_242246.3:n.1580-9_1580-5del
XM_017012319.2:c.-183-9_-183-5del	XP_016867808.1:n.-183-9_-183-5del
XR_001744808.2:n.594-9_594-5del
XR_242246.5:n.1531-9_1531-5del
NM_000466.3:c.1484-9_1484-5del MANE Select	NP_000457.1:n.1484-9_1484-5del
NM_001282677.2:c.1484-9_1484-5del	NP_001269606.1:n.1484-9_1484-5del
NM_001282678.2:c.860-9_860-5del	NP_001269607.1:n.860-9_860-5del