Canonical Allele Identifier: CA843846938

Gene: PEX1

Linked Data

• dbSNP Id: rs1304245274
• gnomAD v3: 7-92496632-C-CA
• gnomAD v4: 7-92496632-C-CA
• MyVariant Identifiers: chr7:g.92125946_92125947insA (hg19) ; chr7:g.92496632_92496633insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496638dup , CM000669.2:g.92496638dup	GRCh38
NC_000007.13:g.92125952dup , CM000669.1:g.92125952dup	GRCh37
NC_000007.12:g.91963888dup	NCBI36
NG_008341.1:g.36899dup
NG_008341.2:g.36899dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+80dup MANE Select	ENSP00000248633.4:n.2783+80dup
ENST00000248633.8:c.2783+80dup	ENSP00000248633.4:n.2783+80dup
ENST00000428214.5:c.2612+80dup	ENSP00000394413.1:n.2612+80dup
ENST00000438045.5:c.1817+80dup	ENSP00000410438.1:n.1817+80dup
ENST00000484913.5:n.2822+80dup
ENST00000496420.5:n.2675+80dup
NM_000466.2:c.2783+80dup	NP_000457.1:n.2783+80dup
NM_001282677.1:c.2612+80dup	NP_001269606.1:n.2612+80dup
NM_001282678.1:c.2159+80dup	NP_001269607.1:n.2159+80dup
XM_005250433.3:c.1034+80dup	XP_005250490.1:n.1034+80dup
XR_242246.3:n.2879+80dup
XM_017012319.2:c.1034+80dup	XP_016867808.1:n.1034+80dup
XR_001744808.2:n.1810+80dup
XR_242246.5:n.2830+80dup
NM_000466.3:c.2783+80dup MANE Select	NP_000457.1:n.2783+80dup
NM_001282677.2:c.2612+80dup	NP_001269606.1:n.2612+80dup
NM_001282678.2:c.2159+80dup	NP_001269607.1:n.2159+80dup