Canonical Allele Identifier: CA2773213255
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826515_136826516insA , CM000668.2:g.136826515_136826516insA GRCh38
NC_000006.11:g.137147653_137147654insA , CM000668.1:g.137147653_137147654insA GRCh37
NC_000006.10:g.137189346_137189347insA NCBI36
NG_008462.1:g.8936_8937insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.339+46_339+47insA MANE Select ENSP00000315680.3:n.339+46_339+47insA
ENST00000541292.6:c.339+46_339+47insA ENSP00000441004.1:n.339+46_339+47insA
ENST00000678002.1:c.214+46_214+47insA
ENST00000678557.1:c.225+46_225+47insA ENSP00000502962.1:n.225+46_225+47insA
ENST00000678593.1:c.344+46_344+47insA ENSP00000503841.1:n.344+46_344+47insA
ENST00000679286.1:c.219+46_219+47insA ENSP00000503168.1:n.219+46_219+47insA
ENST00000318471.4:c.339+46_339+47insA ENSP00000315680.3:n.339+46_339+47insA
ENST00000367756.8:c.339+46_339+47insA ENSP00000356730.4:n.339+46_339+47insA
ENST00000541292.5:c.339+46_339+47insA ENSP00000441004.1:n.339+46_339+47insA
NM_000288.3:c.339+46_339+47insA NP_000279.1:n.339+46_339+47insA
XM_005267019.3:c.225+46_225+47insA XP_005267076.1:n.225+46_225+47insA
XM_006715502.1:c.339+46_339+47insA XP_006715565.1:n.339+46_339+47insA
XM_011535900.1:c.339+46_339+47insA XP_011534202.1:n.339+46_339+47insA
XM_005267019.4:c.225+46_225+47insA XP_005267076.1:n.225+46_225+47insA
XM_006715502.2:c.339+46_339+47insA XP_006715565.1:n.339+46_339+47insA
XM_017010934.2:c.339+46_339+47insA XP_016866423.1:n.339+46_339+47insA
NM_000288.4:c.339+46_339+47insA MANE Select NP_000279.1:n.339+46_339+47insA