Canonical Allele Identifier: CA2773216304
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898273_136898274insAGG , CM000668.2:g.136898273_136898274insAGG GRCh38
NC_000006.11:g.137219411_137219412insAGG , CM000668.1:g.137219411_137219412insAGG GRCh37
NC_000006.10:g.137261104_137261105insAGG NCBI36
NG_008462.1:g.80694_80695insAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+32_903+33insAGG MANE Select ENSP00000315680.3:n.903+32_903+33insAGG
ENST00000541292.6:c.*168+32_*168+33insAGG ENSP00000441004.1:n.*168+32_*168+33insAGG
ENST00000678002.1:c.591+32_591+33insAGG
ENST00000678557.1:c.789+32_789+33insAGG ENSP00000502962.1:n.789+32_789+33insAGG
ENST00000679286.1:c.783+32_783+33insAGG ENSP00000503168.1:n.783+32_783+33insAGG
ENST00000318471.4:c.903+32_903+33insAGG ENSP00000315680.3:n.903+32_903+33insAGG
NM_000288.3:c.903+32_903+33insAGG NP_000279.1:n.903+32_903+33insAGG
XM_005267019.3:c.789+32_789+33insAGG XP_005267076.1:n.789+32_789+33insAGG
XM_006715502.1:c.609+32_609+33insAGG XP_006715565.1:n.609+32_609+33insAGG
XM_005267019.4:c.789+32_789+33insAGG XP_005267076.1:n.789+32_789+33insAGG
XM_006715502.2:c.609+32_609+33insAGG XP_006715565.1:n.609+32_609+33insAGG
XM_017010934.2:c.*26+32_*26+33insAGG XP_016866423.1:n.*26+32_*26+33insAGG
NM_000288.4:c.903+32_903+33insAGG MANE Select NP_000279.1:n.903+32_903+33insAGG