Canonical Allele Identifier: CA843849019

Gene: PEX1

Linked Data

• dbSNP Id: rs1343856522
• gnomAD v3: 7-92500018-CAAAG-C
• gnomAD v4: 7-92500018-CAAAG-C
• MyVariant Identifiers: chr7:g.92129333_92129336del (hg19) ; chr7:g.92500019_92500022del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500019_92500022del , CM000669.2:g.92500019_92500022del	GRCh38
NC_000007.13:g.92129333_92129336del , CM000669.1:g.92129333_92129336del	GRCh37
NC_000007.12:g.91967269_91967272del	NCBI36
NG_008341.1:g.33510_33513del
NG_008341.2:g.33510_33513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-184_2584-181del MANE Select	ENSP00000248633.4:n.2584-184_2584-181del
ENST00000248633.8:c.2584-184_2584-181del	ENSP00000248633.4:n.2584-184_2584-181del
ENST00000428214.5:c.2413-184_2413-181del	ENSP00000394413.1:n.2413-184_2413-181del
ENST00000438045.5:c.1618-184_1618-181del	ENSP00000410438.1:n.1618-184_1618-181del
ENST00000484913.5:n.2623-184_2623-181del
ENST00000496420.5:n.2476-184_2476-181del
NM_000466.2:c.2584-184_2584-181del	NP_000457.1:n.2584-184_2584-181del
NM_001282677.1:c.2413-184_2413-181del	NP_001269606.1:n.2413-184_2413-181del
NM_001282678.1:c.1960-184_1960-181del	NP_001269607.1:n.1960-184_1960-181del
XM_005250433.3:c.835-184_835-181del	XP_005250490.1:n.835-184_835-181del
XR_242246.3:n.2680-184_2680-181del
XM_017012319.2:c.835-184_835-181del	XP_016867808.1:n.835-184_835-181del
XR_001744808.2:n.1611-184_1611-181del
XR_242246.5:n.2631-184_2631-181del
NM_000466.3:c.2584-184_2584-181del MANE Select	NP_000457.1:n.2584-184_2584-181del
NM_001282677.2:c.2413-184_2413-181del	NP_001269606.1:n.2413-184_2413-181del
NM_001282678.2:c.1960-184_1960-181del	NP_001269607.1:n.1960-184_1960-181del