Canonical Allele Identifier: CA1094890234
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872199_136872201dup , CM000668.2:g.136872199_136872201dup GRCh38
NC_000006.11:g.137193337_137193339dup , CM000668.1:g.137193337_137193339dup GRCh37
NC_000006.10:g.137235030_137235032dup NCBI36
NG_008462.1:g.54620_54622dup

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.749_751dup MANE Select ENSP00000315680.3:p.Phe250_Ser251insPhe
ENST00000541292.6:c.*14_*16dup ENSP00000441004.1:n.*14_*16dup
ENST00000678002.1:c.437_439dup
ENST00000678557.1:c.635_637dup ENSP00000502962.1:p.Phe212_Ser213insPhe
ENST00000678593.1:c.754_756dup ENSP00000503841.1:n.754_756dup
ENST00000679286.1:c.629_631dup ENSP00000503168.1:p.Phe210_Ser211insPhe
ENST00000318471.4:c.749_751dup ENSP00000315680.3:p.Phe250_Ser251insPhe
NM_000288.3:c.749_751dup NP_000279.1:p.Phe250_Ser251insPhe
XM_005267019.3:c.635_637dup XP_005267076.1:p.Phe212_Ser213insPhe
XM_006715502.1:c.455_457dup XP_006715565.1:p.Phe152_Ser153insPhe
XM_011535900.1:c.527-25943_527-25941dup XP_011534202.1:n.527-25943_527-25941dup
XM_005267019.4:c.635_637dup XP_005267076.1:p.Phe212_Ser213insPhe
XM_006715502.2:c.455_457dup XP_006715565.1:p.Phe152_Ser153insPhe
XM_017010934.2:c.527-25943_527-25941dup XP_016866423.1:n.527-25943_527-25941dup
NM_000288.4:c.749_751dup MANE Select NP_000279.1:p.Phe250_Ser251insPhe