Canonical Allele Identifier: CA1624312491
Gene: PEX6 HGNC NCBI

Linked Data

dbSNP Id: rs1769987432

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969645_42969652del , CM000668.2:g.42969645_42969652del GRCh38
NC_000006.11:g.42937383_42937390del , CM000668.1:g.42937383_42937390del GRCh37
NC_000006.10:g.43045361_43045368del NCBI36
NG_008370.1:g.14592_14599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1367+16_1367+23del MANE Select ENSP00000303511.8:n.1367+16_1367+23del
ENST00000244546.4:c.1367+16_1367+23del ENSP00000244546.4:n.1367+16_1367+23del
ENST00000304611.12:c.1367+16_1367+23del ENSP00000303511.8:n.1367+16_1367+23del
NM_000287.3:c.1367+16_1367+23del NP_000278.3:n.1367+16_1367+23del
NM_001316313.1:c.1103+16_1103+23del NP_001303242.1:n.1103+16_1103+23del
NR_133009.1:n.1460+16_1460+23del
XM_011514661.1:c.1283+16_1283+23del XP_011512963.1:n.1283+16_1283+23del
XR_926246.1:n.1460+16_1460+23del
XM_011514661.2:c.1283+16_1283+23del XP_011512963.1:n.1283+16_1283+23del
XR_001743466.2:n.2441+16_2441+23del
NM_000287.4:c.1367+16_1367+23del MANE Select NP_000278.3:n.1367+16_1367+23del
NM_001316313.2:c.1103+16_1103+23del NP_001303242.1:n.1103+16_1103+23del
NR_133009.2:n.1398+16_1398+23del