Canonical Allele Identifier: CA843849005

Gene: PEX1

Linked Data

• dbSNP Id: rs1273673242
• gnomAD v3: 7-92500005-CTG-C
• gnomAD v4: 7-92500005-CTG-C
• MyVariant Identifiers: chr7:g.92129320_92129321del (hg19) ; chr7:g.92500006_92500007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92500007_92500008del , CM000669.2:g.92500007_92500008del	GRCh38
NC_000007.13:g.92129321_92129322del , CM000669.1:g.92129321_92129322del	GRCh37
NC_000007.12:g.91967257_91967258del	NCBI36
NG_008341.1:g.33525_33526del
NG_008341.2:g.33525_33526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-169_2584-168del MANE Select	ENSP00000248633.4:n.2584-169_2584-168del
ENST00000248633.8:c.2584-169_2584-168del	ENSP00000248633.4:n.2584-169_2584-168del
ENST00000428214.5:c.2413-169_2413-168del	ENSP00000394413.1:n.2413-169_2413-168del
ENST00000438045.5:c.1618-169_1618-168del	ENSP00000410438.1:n.1618-169_1618-168del
ENST00000484913.5:n.2623-169_2623-168del
ENST00000496420.5:n.2476-169_2476-168del
NM_000466.2:c.2584-169_2584-168del	NP_000457.1:n.2584-169_2584-168del
NM_001282677.1:c.2413-169_2413-168del	NP_001269606.1:n.2413-169_2413-168del
NM_001282678.1:c.1960-169_1960-168del	NP_001269607.1:n.1960-169_1960-168del
XM_005250433.3:c.835-169_835-168del	XP_005250490.1:n.835-169_835-168del
XR_242246.3:n.2680-169_2680-168del
XM_017012319.2:c.835-169_835-168del	XP_016867808.1:n.835-169_835-168del
XR_001744808.2:n.1611-169_1611-168del
XR_242246.5:n.2631-169_2631-168del
NM_000466.3:c.2584-169_2584-168del MANE Select	NP_000457.1:n.2584-169_2584-168del
NM_001282677.2:c.2413-169_2413-168del	NP_001269606.1:n.2413-169_2413-168del
NM_001282678.2:c.1960-169_1960-168del	NP_001269607.1:n.1960-169_1960-168del