Canonical Allele Identifier: CA916082938

Gene: PEX1

Linked Data

• ClinVar Variation Id: 844661
• ClinVar RCV Id: RCV001047573
• dbSNP Id: rs1792018845

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503185_92503240del , CM000669.2:g.92503185_92503240del	GRCh38
NC_000007.13:g.92132499_92132554del , CM000669.1:g.92132499_92132554del	GRCh37
NC_000007.12:g.91970435_91970490del	NCBI36
NG_008341.1:g.30295_30350del
NG_008341.2:g.30295_30350del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2072-42_2085del
ENST00000248633.8:c.2072-42_2085del
ENST00000428214.5:c.1901-42_1914del
ENST00000438045.5:c.1106-42_1119del
ENST00000484913.5:n.2111-42_2124del
ENST00000496420.5:n.1748-42_1761del
NM_000466.2:c.2072-42_2085del
NM_001282677.1:c.1901-42_1914del
NM_001282678.1:c.1448-42_1461del
XM_005250433.3:c.323-42_336del
XR_242246.3:n.2168-42_2181del
XM_017012319.2:c.323-42_336del
XR_001744808.2:n.1099-42_1112del
XR_242246.5:n.2119-42_2132del
NM_000466.3:c.2072-42_2085del
NM_001282677.2:c.1901-42_1914del
NM_001282678.2:c.1448-42_1461del