Canonical Allele Identifier: CA570574060
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872201_136872202insTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTT GRCh38
NC_000006.11:g.137193339_137193340insTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTT GRCh37
NC_000006.10:g.137235032_137235033insTTTTTTTTTT NCBI36
NG_008462.1:g.54622_54623insTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.751_752insTTTTTTTTTT MANE Select ENSP00000315680.3:p.Ser251PhefsTer17
ENST00000541292.6:c.*16_*17insTTTTTTTTTT ENSP00000441004.1:n.*16_*17insTTTTTTTTTT
ENST00000678002.1:c.439_440insTTTTTTTTTT
ENST00000678557.1:c.637_638insTTTTTTTTTT ENSP00000502962.1:p.Ser213PhefsTer17
ENST00000678593.1:c.756_757insTTTTTTTTTT ENSP00000503841.1:n.756_757insTTTTTTTTTT
ENST00000679286.1:c.631_632insTTTTTTTTTT ENSP00000503168.1:p.Ser211PhefsTer17
ENST00000318471.4:c.751_752insTTTTTTTTTT ENSP00000315680.3:p.Ser251PhefsTer17
NM_000288.3:c.751_752insTTTTTTTTTT NP_000279.1:p.Ser251PhefsTer17
XM_005267019.3:c.637_638insTTTTTTTTTT XP_005267076.1:p.Ser213PhefsTer17
XM_006715502.1:c.457_458insTTTTTTTTTT XP_006715565.1:p.Ser153PhefsTer17
XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTT XP_011534202.1:n.527-25941_527-25940insTT...
XM_005267019.4:c.637_638insTTTTTTTTTT XP_005267076.1:p.Ser213PhefsTer17
XM_006715502.2:c.457_458insTTTTTTTTTT XP_006715565.1:p.Ser153PhefsTer17
XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTT XP_016866423.1:n.527-25941_527-25940insTT...
NM_000288.4:c.751_752insTTTTTTTTTT MANE Select NP_000279.1:p.Ser251PhefsTer17