Canonical Allele Identifier: CA2683720605

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511153-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511153_92511154insTC , CM000669.2:g.92511153_92511154insTC	GRCh38
NC_000007.13:g.92140467_92140468insTC , CM000669.1:g.92140467_92140468insTC	GRCh37
NC_000007.12:g.91978403_91978404insTC	NCBI36
NG_008341.1:g.22378_22379insGA
NG_008341.2:g.22378_22379insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-107_1484-106insGA MANE Select	ENSP00000248633.4:n.1484-107_1484-106insGA
ENST00000248633.8:c.1484-107_1484-106insGA	ENSP00000248633.4:n.1484-107_1484-106insGA
ENST00000422866.1:c.385-107_385-106insGA
ENST00000428214.5:c.1484-107_1484-106insGA	ENSP00000394413.1:n.1484-107_1484-106insGA
ENST00000438045.5:c.518-107_518-106insGA	ENSP00000410438.1:n.518-107_518-106insGA
ENST00000476923.1:n.245-107_245-106insGA
ENST00000484913.5:n.1523-107_1523-106insGA
NM_000466.2:c.1484-107_1484-106insGA	NP_000457.1:n.1484-107_1484-106insGA
NM_001282677.1:c.1484-107_1484-106insGA	NP_001269606.1:n.1484-107_1484-106insGA
NM_001282678.1:c.860-107_860-106insGA	NP_001269607.1:n.860-107_860-106insGA
XM_005250433.3:c.-183-107_-183-106insGA	XP_005250490.1:n.-183-107_-183-106insGA
XR_242246.3:n.1580-107_1580-106insGA
XM_017012319.2:c.-183-107_-183-106insGA	XP_016867808.1:n.-183-107_-183-106insGA
XR_001744808.2:n.594-107_594-106insGA
XR_242246.5:n.1531-107_1531-106insGA
NM_000466.3:c.1484-107_1484-106insGA MANE Select	NP_000457.1:n.1484-107_1484-106insGA
NM_001282677.2:c.1484-107_1484-106insGA	NP_001269606.1:n.1484-107_1484-106insGA
NM_001282678.2:c.860-107_860-106insGA	NP_001269607.1:n.860-107_860-106insGA