Canonical Allele Identifier: CA2601656070

Gene: PEX1

Linked Data

• gnomAD v3: 7-92496546-T-TA
• gnomAD v4: 7-92496546-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496546_92496547insA , CM000669.2:g.92496546_92496547insA	GRCh38
NC_000007.13:g.92125860_92125861insA , CM000669.1:g.92125860_92125861insA	GRCh37
NC_000007.12:g.91963796_91963797insA	NCBI36
NG_008341.1:g.36985_36986insT
NG_008341.2:g.36985_36986insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2783+166_2783+167insT MANE Select	ENSP00000248633.4:n.2783+166_2783+167insT
ENST00000248633.8:c.2783+166_2783+167insT	ENSP00000248633.4:n.2783+166_2783+167insT
ENST00000428214.5:c.2612+166_2612+167insT	ENSP00000394413.1:n.2612+166_2612+167insT
ENST00000438045.5:c.1817+166_1817+167insT	ENSP00000410438.1:n.1817+166_1817+167insT
ENST00000484913.5:n.2822+166_2822+167insT
ENST00000496420.5:n.2675+166_2675+167insT
NM_000466.2:c.2783+166_2783+167insT	NP_000457.1:n.2783+166_2783+167insT
NM_001282677.1:c.2612+166_2612+167insT	NP_001269606.1:n.2612+166_2612+167insT
NM_001282678.1:c.2159+166_2159+167insT	NP_001269607.1:n.2159+166_2159+167insT
XM_005250433.3:c.1034+166_1034+167insT	XP_005250490.1:n.1034+166_1034+167insT
XR_242246.3:n.2879+166_2879+167insT
XM_017012319.2:c.1034+166_1034+167insT	XP_016867808.1:n.1034+166_1034+167insT
XR_001744808.2:n.1810+166_1810+167insT
XR_242246.5:n.2830+166_2830+167insT
NM_000466.3:c.2783+166_2783+167insT MANE Select	NP_000457.1:n.2783+166_2783+167insT
NM_001282677.2:c.2612+166_2612+167insT	NP_001269606.1:n.2612+166_2612+167insT
NM_001282678.2:c.2159+166_2159+167insT	NP_001269607.1:n.2159+166_2159+167insT