Canonical Allele Identifier: CA576303773

Gene: PEX1

Linked Data

• dbSNP Id: rs1400827862
• gnomAD v2: 7-92126100-TA-T
• gnomAD v4: 7-92496786-TA-T
• MyVariant Identifiers: chr7:g.92126101del (hg19) ; chr7:g.92496787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496790del , CM000669.2:g.92496790del	GRCh38
NC_000007.13:g.92126104del , CM000669.1:g.92126104del	GRCh37
NC_000007.12:g.91964040del	NCBI36
NG_008341.1:g.36745del
NG_008341.2:g.36745del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-10del MANE Select	ENSP00000248633.4:n.2719-10del
ENST00000248633.8:c.2719-10del	ENSP00000248633.4:n.2719-10del
ENST00000428214.5:c.2548-10del	ENSP00000394413.1:n.2548-10del
ENST00000438045.5:c.1753-10del	ENSP00000410438.1:n.1753-10del
ENST00000484913.5:n.2758-10del
ENST00000496420.5:n.2611-10del
NM_000466.2:c.2719-10del	NP_000457.1:n.2719-10del
NM_001282677.1:c.2548-10del	NP_001269606.1:n.2548-10del
NM_001282678.1:c.2095-10del	NP_001269607.1:n.2095-10del
XM_005250433.3:c.970-10del	XP_005250490.1:n.970-10del
XR_242246.3:n.2815-10del
XM_017012319.2:c.970-10del	XP_016867808.1:n.970-10del
XR_001744808.2:n.1746-10del
XR_242246.5:n.2766-10del
NM_000466.3:c.2719-10del MANE Select	NP_000457.1:n.2719-10del
NM_001282677.2:c.2548-10del	NP_001269606.1:n.2548-10del
NM_001282678.2:c.2095-10del	NP_001269607.1:n.2095-10del