Canonical Allele Identifier: CA4341264

Gene: PEX1

Linked Data

• dbSNP Id: rs749172761
• ExAC: 7:92135513 GTCTT / G
• gnomAD v2: 7-92135513-GTCTT-G
• gnomAD v3: 7-92506199-GTCTT-G
• gnomAD v4: 7-92506199-GTCTT-G
• MyVariant Identifiers: chr7:g.92135514_92135517del (hg19) ; chr7:g.92506200_92506203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506203_92506206del , CM000669.2:g.92506203_92506206del	GRCh38
NC_000007.13:g.92135517_92135520del , CM000669.1:g.92135517_92135520del	GRCh37
NC_000007.12:g.91973453_91973456del	NCBI36
NG_008341.1:g.27329_27332del
NG_008341.2:g.27329_27332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1900+45_1900+48del MANE Select	ENSP00000248633.4:n.1900+45_1900+48del
ENST00000248633.8:c.1900+45_1900+48del	ENSP00000248633.4:n.1900+45_1900+48del
ENST00000422866.1:c.718+45_718+48del
ENST00000428214.5:c.1900+45_1900+48del	ENSP00000394413.1:n.1900+45_1900+48del
ENST00000438045.5:c.934+45_934+48del	ENSP00000410438.1:n.934+45_934+48del
ENST00000484913.5:n.1939+45_1939+48del
ENST00000496420.5:n.1576+45_1576+48del
NM_000466.2:c.1900+45_1900+48del	NP_000457.1:n.1900+45_1900+48del
NM_001282677.1:c.1900+45_1900+48del	NP_001269606.1:n.1900+45_1900+48del
NM_001282678.1:c.1276+45_1276+48del	NP_001269607.1:n.1276+45_1276+48del
XM_005250433.3:c.151+45_151+48del	XP_005250490.1:n.151+45_151+48del
XR_242246.3:n.1996+45_1996+48del
XM_017012319.2:c.151+45_151+48del	XP_016867808.1:n.151+45_151+48del
XR_001744808.2:n.927+45_927+48del
XR_242246.5:n.1947+45_1947+48del
NM_000466.3:c.1900+45_1900+48del MANE Select	NP_000457.1:n.1900+45_1900+48del
NM_001282677.2:c.1900+45_1900+48del	NP_001269606.1:n.1900+45_1900+48del
NM_001282678.2:c.1276+45_1276+48del	NP_001269607.1:n.1276+45_1276+48del