Canonical Allele Identifier: CA2773216319
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898332_136898333insACA , CM000668.2:g.136898332_136898333insACA GRCh38
NC_000006.11:g.137219470_137219471insACA , CM000668.1:g.137219470_137219471insACA GRCh37
NC_000006.10:g.137261163_137261164insACA NCBI36
NG_008462.1:g.80753_80754insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+91_903+92insACA MANE Select ENSP00000315680.3:n.903+91_903+92insACA
ENST00000541292.6:c.*168+91_*168+92insACA ENSP00000441004.1:n.*168+91_*168+92insACA
ENST00000678002.1:c.591+91_591+92insACA
ENST00000678557.1:c.789+91_789+92insACA ENSP00000502962.1:n.789+91_789+92insACA
ENST00000679286.1:c.783+91_783+92insACA ENSP00000503168.1:n.783+91_783+92insACA
ENST00000318471.4:c.903+91_903+92insACA ENSP00000315680.3:n.903+91_903+92insACA
NM_000288.3:c.903+91_903+92insACA NP_000279.1:n.903+91_903+92insACA
XM_005267019.3:c.789+91_789+92insACA XP_005267076.1:n.789+91_789+92insACA
XM_006715502.1:c.609+91_609+92insACA XP_006715565.1:n.609+91_609+92insACA
XM_005267019.4:c.789+91_789+92insACA XP_005267076.1:n.789+91_789+92insACA
XM_006715502.2:c.609+91_609+92insACA XP_006715565.1:n.609+91_609+92insACA
XM_017010934.2:c.*26+91_*26+92insACA XP_016866423.1:n.*26+91_*26+92insACA
NM_000288.4:c.903+91_903+92insACA MANE Select NP_000279.1:n.903+91_903+92insACA