Canonical Allele Identifier: CA658823128

Gene: PEX1

Linked Data

• ClinVar Variation Id: 553087
• ClinVar RCV Id: RCV000668463
• dbSNP Id: rs1554375280
• MyVariant Identifiers: chr7:g.92517394_92517414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517400_92517420del , CM000669.2:g.92517400_92517420del	GRCh38
NC_000007.13:g.92146714_92146734del , CM000669.1:g.92146714_92146734del	GRCh37
NC_000007.12:g.91984650_91984670del	NCBI36
NG_008341.1:g.16118_16138del
NG_008341.2:g.16118_16138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1101_1121del MANE Select	ENSP00000248633.4:p.Gln367_Asp373del
ENST00000248633.8:c.1101_1121del	ENSP00000248633.4:p.Gln367_Asp373del
ENST00000428214.5:c.1101_1121del	ENSP00000394413.1:p.Gln367_Asp373del
ENST00000438045.5:c.274-3447_274-3427del	ENSP00000410438.1:n.274-3447_274-3427del
ENST00000484913.5:n.1140_1160del
NM_000466.2:c.1101_1121del	NP_000457.1:p.Gln367_Asp373del
NM_001282677.1:c.1101_1121del	NP_001269606.1:p.Gln367_Asp373del
NM_001282678.1:c.477_497del	NP_001269607.1:p.Gln159_Asp165del
XR_242246.3:n.1197_1217del
XM_017012319.2:c.-566_-546del	XP_016867808.1:n.-566_-546del
XR_001744808.2:n.211_231del
XR_242246.5:n.1148_1168del
NM_000466.3:c.1101_1121del MANE Select	NP_000457.1:p.Gln367_Asp373del
NM_001282677.2:c.1101_1121del	NP_001269606.1:p.Gln367_Asp373del
NM_001282678.2:c.477_497del	NP_001269607.1:p.Gln159_Asp165del