Canonical Allele Identifier: CA2680490652

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872152-ACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872154_136872156del , CM000668.2:g.136872154_136872156del	GRCh38
NC_000006.11:g.137193292_137193294del , CM000668.1:g.137193292_137193294del	GRCh37
NC_000006.10:g.137234985_137234987del	NCBI36
NG_008462.1:g.54575_54577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-44_748-42del MANE Select	ENSP00000315680.3:n.748-44_748-42del
ENST00000541292.6:c.*13-44_*13-42del	ENSP00000441004.1:n.*13-44_*13-42del
ENST00000678002.1:c.436-44_436-42del
ENST00000678557.1:c.634-44_634-42del	ENSP00000502962.1:n.634-44_634-42del
ENST00000678593.1:c.753-44_753-42del	ENSP00000503841.1:n.753-44_753-42del
ENST00000679286.1:c.628-44_628-42del	ENSP00000503168.1:n.628-44_628-42del
ENST00000318471.4:c.748-44_748-42del	ENSP00000315680.3:n.748-44_748-42del
NM_000288.3:c.748-44_748-42del	NP_000279.1:n.748-44_748-42del
XM_005267019.3:c.634-44_634-42del	XP_005267076.1:n.634-44_634-42del
XM_006715502.1:c.454-44_454-42del	XP_006715565.1:n.454-44_454-42del
XM_011535900.1:c.526+25973_526+25975del	XP_011534202.1:n.526+25973_526+25975del
XM_005267019.4:c.634-44_634-42del	XP_005267076.1:n.634-44_634-42del
XM_006715502.2:c.454-44_454-42del	XP_006715565.1:n.454-44_454-42del
XM_017010934.2:c.526+25973_526+25975del	XP_016866423.1:n.526+25973_526+25975del
NM_000288.4:c.748-44_748-42del MANE Select	NP_000279.1:n.748-44_748-42del