Canonical Allele Identifier: CA1094876413
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1775683729

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898105del , CM000668.2:g.136898105del GRCh38
NC_000006.11:g.137219243del , CM000668.1:g.137219243del GRCh37
NC_000006.10:g.137260936del NCBI36
NG_008462.1:g.80526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.804-37del MANE Select ENSP00000315680.3:n.804-37del
ENST00000541292.6:c.*69-37del ENSP00000441004.1:n.*69-37del
ENST00000678002.1:c.492-37del
ENST00000678557.1:c.690-37del ENSP00000502962.1:n.690-37del
ENST00000679286.1:c.684-37del ENSP00000503168.1:n.684-37del
ENST00000318471.4:c.804-37del ENSP00000315680.3:n.804-37del
NM_000288.3:c.804-37del NP_000279.1:n.804-37del
XM_005267019.3:c.690-37del XP_005267076.1:n.690-37del
XM_006715502.1:c.510-37del XP_006715565.1:n.510-37del
XM_011535900.1:c.527-37del XP_011534202.1:n.527-37del
XM_005267019.4:c.690-37del XP_005267076.1:n.690-37del
XM_006715502.2:c.510-37del XP_006715565.1:n.510-37del
XM_017010934.2:c.527-37del XP_016866423.1:n.527-37del
NM_000288.4:c.804-37del MANE Select NP_000279.1:n.804-37del