Canonical Allele Identifier: CA2683717994

Gene: PEX1

Linked Data

• gnomAD v4: 7-92494694-TACATATATGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494696_92494705del , CM000669.2:g.92494696_92494705del	GRCh38
NC_000007.13:g.92124010_92124019del , CM000669.1:g.92124010_92124019del	GRCh37
NC_000007.12:g.91961946_91961955del	NCBI36
NG_008341.1:g.38828_38837del
NG_008341.2:g.38828_38837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-75_2784-66del MANE Select	ENSP00000248633.4:n.2784-75_2784-66del
ENST00000248633.8:c.2784-75_2784-66del	ENSP00000248633.4:n.2784-75_2784-66del
ENST00000428214.5:c.2613-75_2613-66del	ENSP00000394413.1:n.2613-75_2613-66del
ENST00000438045.5:c.1818-75_1818-66del	ENSP00000410438.1:n.1818-75_1818-66del
ENST00000484913.5:n.2823-75_2823-66del
ENST00000496420.5:n.2676-75_2676-66del
NM_000466.2:c.2784-75_2784-66del	NP_000457.1:n.2784-75_2784-66del
NM_001282677.1:c.2613-75_2613-66del	NP_001269606.1:n.2613-75_2613-66del
NM_001282678.1:c.2160-75_2160-66del	NP_001269607.1:n.2160-75_2160-66del
XM_005250433.3:c.1035-75_1035-66del	XP_005250490.1:n.1035-75_1035-66del
XR_242246.3:n.2880-75_2880-66del
XM_017012319.2:c.1035-75_1035-66del	XP_016867808.1:n.1035-75_1035-66del
XR_001744808.2:n.1811-75_1811-66del
XR_242246.5:n.2831-75_2831-66del
NM_000466.3:c.2784-75_2784-66del MANE Select	NP_000457.1:n.2784-75_2784-66del
NM_001282677.2:c.2613-75_2613-66del	NP_001269606.1:n.2613-75_2613-66del
NM_001282678.2:c.2160-75_2160-66del	NP_001269607.1:n.2160-75_2160-66del