Canonical Allele Identifier: CA1104471865

Gene: PEX1

Linked Data

• gnomAD v3: 7-92511153-TCCCCCC-T
• gnomAD v4: 7-92511153-TCCCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511154_92511159del , CM000669.2:g.92511154_92511159del	GRCh38
NC_000007.13:g.92140468_92140473del , CM000669.1:g.92140468_92140473del	GRCh37
NC_000007.12:g.91978404_91978409del	NCBI36
NG_008341.1:g.22373_22378del
NG_008341.2:g.22373_22378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-112_1484-107del MANE Select	ENSP00000248633.4:n.1484-112_1484-107del
ENST00000248633.8:c.1484-112_1484-107del	ENSP00000248633.4:n.1484-112_1484-107del
ENST00000422866.1:c.385-112_385-107del
ENST00000428214.5:c.1484-112_1484-107del	ENSP00000394413.1:n.1484-112_1484-107del
ENST00000438045.5:c.518-112_518-107del	ENSP00000410438.1:n.518-112_518-107del
ENST00000476923.1:n.245-112_245-107del
ENST00000484913.5:n.1523-112_1523-107del
NM_000466.2:c.1484-112_1484-107del	NP_000457.1:n.1484-112_1484-107del
NM_001282677.1:c.1484-112_1484-107del	NP_001269606.1:n.1484-112_1484-107del
NM_001282678.1:c.860-112_860-107del	NP_001269607.1:n.860-112_860-107del
XM_005250433.3:c.-183-112_-183-107del	XP_005250490.1:n.-183-112_-183-107del
XR_242246.3:n.1580-112_1580-107del
XM_017012319.2:c.-183-112_-183-107del	XP_016867808.1:n.-183-112_-183-107del
XR_001744808.2:n.594-112_594-107del
XR_242246.5:n.1531-112_1531-107del
NM_000466.3:c.1484-112_1484-107del MANE Select	NP_000457.1:n.1484-112_1484-107del
NM_001282677.2:c.1484-112_1484-107del	NP_001269606.1:n.1484-112_1484-107del
NM_001282678.2:c.860-112_860-107del	NP_001269607.1:n.860-112_860-107del