Canonical Allele Identifier: CA2497184231

Gene: PEX7

Linked Data

• dbSNP Id: rs1775192730
• gnomAD v4: 6-136872163-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872168del , CM000668.2:g.136872168del	GRCh38
NC_000006.11:g.137193306del , CM000668.1:g.137193306del	GRCh37
NC_000006.10:g.137234999del	NCBI36
NG_008462.1:g.54589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-30del MANE Select	ENSP00000315680.3:n.748-30del
ENST00000541292.6:c.*13-30del	ENSP00000441004.1:n.*13-30del
ENST00000678002.1:c.436-30del
ENST00000678557.1:c.634-30del	ENSP00000502962.1:n.634-30del
ENST00000678593.1:c.753-30del	ENSP00000503841.1:n.753-30del
ENST00000679286.1:c.628-30del	ENSP00000503168.1:n.628-30del
ENST00000318471.4:c.748-30del	ENSP00000315680.3:n.748-30del
NM_000288.3:c.748-30del	NP_000279.1:n.748-30del
XM_005267019.3:c.634-30del	XP_005267076.1:n.634-30del
XM_006715502.1:c.454-30del	XP_006715565.1:n.454-30del
XM_011535900.1:c.527-25974del	XP_011534202.1:n.527-25974del
XM_005267019.4:c.634-30del	XP_005267076.1:n.634-30del
XM_006715502.2:c.454-30del	XP_006715565.1:n.454-30del
XM_017010934.2:c.527-25974del	XP_016866423.1:n.527-25974del
NM_000288.4:c.748-30del MANE Select	NP_000279.1:n.748-30del