Canonical Allele Identifier: CA2497184527
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1411242486

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136897975_136897976del , CM000668.2:g.136897975_136897976del GRCh38
NC_000006.11:g.137219113_137219114del , CM000668.1:g.137219113_137219114del GRCh37
NC_000006.10:g.137260806_137260807del NCBI36
NG_008462.1:g.80396_80397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.804-167_804-166del MANE Select ENSP00000315680.3:n.804-167_804-166del
ENST00000541292.6:c.*69-167_*69-166del ENSP00000441004.1:n.*69-167_*69-166del
ENST00000678002.1:c.492-167_492-166del
ENST00000678557.1:c.690-167_690-166del ENSP00000502962.1:n.690-167_690-166del
ENST00000679286.1:c.684-167_684-166del ENSP00000503168.1:n.684-167_684-166del
ENST00000318471.4:c.804-167_804-166del ENSP00000315680.3:n.804-167_804-166del
NM_000288.3:c.804-167_804-166del NP_000279.1:n.804-167_804-166del
XM_005267019.3:c.690-167_690-166del XP_005267076.1:n.690-167_690-166del
XM_006715502.1:c.510-167_510-166del XP_006715565.1:n.510-167_510-166del
XM_011535900.1:c.527-167_527-166del XP_011534202.1:n.527-167_527-166del
XM_005267019.4:c.690-167_690-166del XP_005267076.1:n.690-167_690-166del
XM_006715502.2:c.510-167_510-166del XP_006715565.1:n.510-167_510-166del
XM_017010934.2:c.527-167_527-166del XP_016866423.1:n.527-167_527-166del
NM_000288.4:c.804-167_804-166del MANE Select NP_000279.1:n.804-167_804-166del