Canonical Allele Identifier: CA2773216324
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898343_136898344insCTT , CM000668.2:g.136898343_136898344insCTT GRCh38
NC_000006.11:g.137219481_137219482insCTT , CM000668.1:g.137219481_137219482insCTT GRCh37
NC_000006.10:g.137261174_137261175insCTT NCBI36
NG_008462.1:g.80764_80765insCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+102_903+103insCTT MANE Select ENSP00000315680.3:n.903+102_903+103insCTT
ENST00000541292.6:c.*168+102_*168+103insCTT ENSP00000441004.1:n.*168+102_*168+103insCTT
ENST00000678002.1:c.591+102_591+103insCTT
ENST00000678557.1:c.789+102_789+103insCTT ENSP00000502962.1:n.789+102_789+103insCTT
ENST00000679286.1:c.783+102_783+103insCTT ENSP00000503168.1:n.783+102_783+103insCTT
ENST00000318471.4:c.903+102_903+103insCTT ENSP00000315680.3:n.903+102_903+103insCTT
NM_000288.3:c.903+102_903+103insCTT NP_000279.1:n.903+102_903+103insCTT
XM_005267019.3:c.789+102_789+103insCTT XP_005267076.1:n.789+102_789+103insCTT
XM_006715502.1:c.609+102_609+103insCTT XP_006715565.1:n.609+102_609+103insCTT
XM_005267019.4:c.789+102_789+103insCTT XP_005267076.1:n.789+102_789+103insCTT
XM_006715502.2:c.609+102_609+103insCTT XP_006715565.1:n.609+102_609+103insCTT
XM_017010934.2:c.*26+102_*26+103insCTT XP_016866423.1:n.*26+102_*26+103insCTT
NM_000288.4:c.903+102_903+103insCTT MANE Select NP_000279.1:n.903+102_903+103insCTT