Canonical Allele Identifier: CA843846935

Gene: PEX1

Linked Data

• dbSNP Id: rs1395311702
• gnomAD v3: 7-92496626-GTTC-G
• gnomAD v4: 7-92496626-GTTC-G
• MyVariant Identifiers: chr7:g.92125941_92125943del (hg19) ; chr7:g.92496627_92496629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496630_92496632del , CM000669.2:g.92496630_92496632del	GRCh38
NC_000007.13:g.92125944_92125946del , CM000669.1:g.92125944_92125946del	GRCh37
NC_000007.12:g.91963880_91963882del	NCBI36
NG_008341.1:g.36903_36905del
NG_008341.2:g.36903_36905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+84_2783+86del MANE Select	ENSP00000248633.4:n.2783+84_2783+86del
ENST00000248633.8:c.2783+84_2783+86del	ENSP00000248633.4:n.2783+84_2783+86del
ENST00000428214.5:c.2612+84_2612+86del	ENSP00000394413.1:n.2612+84_2612+86del
ENST00000438045.5:c.1817+84_1817+86del	ENSP00000410438.1:n.1817+84_1817+86del
ENST00000484913.5:n.2822+84_2822+86del
ENST00000496420.5:n.2675+84_2675+86del
NM_000466.2:c.2783+84_2783+86del	NP_000457.1:n.2783+84_2783+86del
NM_001282677.1:c.2612+84_2612+86del	NP_001269606.1:n.2612+84_2612+86del
NM_001282678.1:c.2159+84_2159+86del	NP_001269607.1:n.2159+84_2159+86del
XM_005250433.3:c.1034+84_1034+86del	XP_005250490.1:n.1034+84_1034+86del
XR_242246.3:n.2879+84_2879+86del
XM_017012319.2:c.1034+84_1034+86del	XP_016867808.1:n.1034+84_1034+86del
XR_001744808.2:n.1810+84_1810+86del
XR_242246.5:n.2830+84_2830+86del
NM_000466.3:c.2783+84_2783+86del MANE Select	NP_000457.1:n.2783+84_2783+86del
NM_001282677.2:c.2612+84_2612+86del	NP_001269606.1:n.2612+84_2612+86del
NM_001282678.2:c.2159+84_2159+86del	NP_001269607.1:n.2159+84_2159+86del