Canonical Allele Identifier: CA843848966

Gene: PEX1

Linked Data

• dbSNP Id: rs1225760543
• gnomAD v3: 7-92499893-CTAAG-C
• gnomAD v4: 7-92499893-CTAAG-C
• MyVariant Identifiers: chr7:g.92129208_92129211del (hg19) ; chr7:g.92499894_92499897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499896_92499899del , CM000669.2:g.92499896_92499899del	GRCh38
NC_000007.13:g.92129210_92129213del , CM000669.1:g.92129210_92129213del	GRCh37
NC_000007.12:g.91967146_91967149del	NCBI36
NG_008341.1:g.33635_33638del
NG_008341.2:g.33635_33638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-59_2584-56del MANE Select	ENSP00000248633.4:n.2584-59_2584-56del
ENST00000248633.8:c.2584-59_2584-56del	ENSP00000248633.4:n.2584-59_2584-56del
ENST00000428214.5:c.2413-59_2413-56del	ENSP00000394413.1:n.2413-59_2413-56del
ENST00000438045.5:c.1618-59_1618-56del	ENSP00000410438.1:n.1618-59_1618-56del
ENST00000484913.5:n.2623-59_2623-56del
ENST00000496420.5:n.2476-59_2476-56del
NM_000466.2:c.2584-59_2584-56del	NP_000457.1:n.2584-59_2584-56del
NM_001282677.1:c.2413-59_2413-56del	NP_001269606.1:n.2413-59_2413-56del
NM_001282678.1:c.1960-59_1960-56del	NP_001269607.1:n.1960-59_1960-56del
XM_005250433.3:c.835-59_835-56del	XP_005250490.1:n.835-59_835-56del
XR_242246.3:n.2680-59_2680-56del
XM_017012319.2:c.835-59_835-56del	XP_016867808.1:n.835-59_835-56del
XR_001744808.2:n.1611-59_1611-56del
XR_242246.5:n.2631-59_2631-56del
NM_000466.3:c.2584-59_2584-56del MANE Select	NP_000457.1:n.2584-59_2584-56del
NM_001282677.2:c.2413-59_2413-56del	NP_001269606.1:n.2413-59_2413-56del
NM_001282678.2:c.1960-59_1960-56del	NP_001269607.1:n.1960-59_1960-56del