Canonical Allele Identifier: CA119077
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs62636519

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822678_136822684dup , CM000668.2:g.136822678_136822684dup GRCh38
NC_000006.11:g.137143816_137143822dup , CM000668.1:g.137143816_137143822dup GRCh37
NC_000006.10:g.137185509_137185515dup NCBI36
NG_008462.1:g.5099_5105dup

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.13_19dup MANE Select ENSP00000315680.3:p.Gly7ValfsTer?
ENST00000541292.6:c.13_19dup ENSP00000441004.1:p.Gly7ValfsTer?
ENST00000678593.1:c.13_19dup ENSP00000503841.1:p.Gly7ValfsTer?
ENST00000318471.4:c.13_19dup ENSP00000315680.3:p.Gly7ValfsTer?
ENST00000367756.8:c.13_19dup ENSP00000356730.4:p.Gly7ValfsTer?
ENST00000541292.5:c.13_19dup ENSP00000441004.1:p.Gly7ValfsTer?
NM_000288.3:c.13_19dup NP_000279.1:p.Gly7ValfsTer?
XM_006715502.1:c.13_19dup XP_006715565.1:p.Gly7ValfsTer?
XM_011535900.1:c.13_19dup XP_011534202.1:p.Gly7ValfsTer?
XM_006715502.2:c.13_19dup XP_006715565.1:p.Gly7ValfsTer?
XM_017010934.2:c.13_19dup XP_016866423.1:p.Gly7ValfsTer?
NM_000288.4:c.13_19dup MANE Select NP_000279.1:p.Gly7ValfsTer?