Canonical Allele Identifier: CA1725935318

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500088_92500091delinsACTT , CM000669.2:g.92500088_92500091delinsACTT	GRCh38
NC_000007.13:g.92129402_92129405delinsACTT , CM000669.1:g.92129402_92129405delinsACTT	GRCh37
NC_000007.12:g.91967338_91967341delinsACTT	NCBI36
NG_008341.1:g.33441_33444delinsAAGT
NG_008341.2:g.33441_33444delinsAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-253_2584-250delinsAAGT MANE Select	ENSP00000248633.4:n.2584-253_2584-250delinsAAGT
ENST00000248633.8:c.2584-253_2584-250delinsAAGT	ENSP00000248633.4:n.2584-253_2584-250delinsAAGT
ENST00000428214.5:c.2413-253_2413-250delinsAAGT	ENSP00000394413.1:n.2413-253_2413-250delinsAAGT
ENST00000438045.5:c.1618-253_1618-250delinsAAGT	ENSP00000410438.1:n.1618-253_1618-250delinsAAGT
ENST00000484913.5:n.2623-253_2623-250delinsAAGT
ENST00000496420.5:n.2476-253_2476-250delinsAAGT
NM_000466.2:c.2584-253_2584-250delinsAAGT	NP_000457.1:n.2584-253_2584-250delinsAAGT
NM_001282677.1:c.2413-253_2413-250delinsAAGT	NP_001269606.1:n.2413-253_2413-250delinsAAGT
NM_001282678.1:c.1960-253_1960-250delinsAAGT	NP_001269607.1:n.1960-253_1960-250delinsAAGT
XM_005250433.3:c.835-253_835-250delinsAAGT	XP_005250490.1:n.835-253_835-250delinsAAGT
XR_242246.3:n.2680-253_2680-250delinsAAGT
XM_017012319.2:c.835-253_835-250delinsAAGT	XP_016867808.1:n.835-253_835-250delinsAAGT
XR_001744808.2:n.1611-253_1611-250delinsAAGT
XR_242246.5:n.2631-253_2631-250delinsAAGT
NM_000466.3:c.2584-253_2584-250delinsAAGT MANE Select	NP_000457.1:n.2584-253_2584-250delinsAAGT
NM_001282677.2:c.2413-253_2413-250delinsAAGT	NP_001269606.1:n.2413-253_2413-250delinsAAGT
NM_001282678.2:c.1960-253_1960-250delinsAAGT	NP_001269607.1:n.1960-253_1960-250delinsAAGT