Canonical Allele Identifier: CA4341021

Gene: PEX1

Linked Data

• dbSNP Id: rs753998290
• ExAC: 7:92126020 T / TACC
• gnomAD v4: 7-92496706-T-TACC
• MyVariant Identifiers: chr7:g.92126020_92126021insACC (hg19) ; chr7:g.92496706_92496707insACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496708_92496710dup , CM000669.2:g.92496708_92496710dup	GRCh38
NC_000007.13:g.92126022_92126024dup , CM000669.1:g.92126022_92126024dup	GRCh37
NC_000007.12:g.91963958_91963960dup	NCBI36
NG_008341.1:g.36823_36825dup
NG_008341.2:g.36823_36825dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+4_2783+6dup MANE Select	ENSP00000248633.4:n.2783+4_2783+6dup
ENST00000248633.8:c.2783+4_2783+6dup	ENSP00000248633.4:n.2783+4_2783+6dup
ENST00000428214.5:c.2612+4_2612+6dup	ENSP00000394413.1:n.2612+4_2612+6dup
ENST00000438045.5:c.1817+4_1817+6dup	ENSP00000410438.1:n.1817+4_1817+6dup
ENST00000484913.5:n.2822+4_2822+6dup
ENST00000496420.5:n.2675+4_2675+6dup
NM_000466.2:c.2783+4_2783+6dup	NP_000457.1:n.2783+4_2783+6dup
NM_001282677.1:c.2612+4_2612+6dup	NP_001269606.1:n.2612+4_2612+6dup
NM_001282678.1:c.2159+4_2159+6dup	NP_001269607.1:n.2159+4_2159+6dup
XM_005250433.3:c.1034+4_1034+6dup	XP_005250490.1:n.1034+4_1034+6dup
XR_242246.3:n.2879+4_2879+6dup
XM_017012319.2:c.1034+4_1034+6dup	XP_016867808.1:n.1034+4_1034+6dup
XR_001744808.2:n.1810+4_1810+6dup
XR_242246.5:n.2830+4_2830+6dup
NM_000466.3:c.2783+4_2783+6dup MANE Select	NP_000457.1:n.2783+4_2783+6dup
NM_001282677.2:c.2612+4_2612+6dup	NP_001269606.1:n.2612+4_2612+6dup
NM_001282678.2:c.2159+4_2159+6dup	NP_001269607.1:n.2159+4_2159+6dup