Canonical Allele Identifier: CA2680490424

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898392-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898394del , CM000668.2:g.136898394del	GRCh38
NC_000006.11:g.137219532del , CM000668.1:g.137219532del	GRCh37
NC_000006.10:g.137261225del	NCBI36
NG_008462.1:g.80815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+153del MANE Select	ENSP00000315680.3:n.903+153del
ENST00000541292.6:c.*168+153del	ENSP00000441004.1:n.*168+153del
ENST00000678002.1:c.591+153del
ENST00000678557.1:c.789+153del	ENSP00000502962.1:n.789+153del
ENST00000679286.1:c.783+153del	ENSP00000503168.1:n.783+153del
ENST00000318471.4:c.903+153del	ENSP00000315680.3:n.903+153del
NM_000288.3:c.903+153del	NP_000279.1:n.903+153del
XM_005267019.3:c.789+153del	XP_005267076.1:n.789+153del
XM_006715502.1:c.609+153del	XP_006715565.1:n.609+153del
XM_005267019.4:c.789+153del	XP_005267076.1:n.789+153del
XM_006715502.2:c.609+153del	XP_006715565.1:n.609+153del
XM_017010934.2:c.*26+153del	XP_016866423.1:n.*26+153del
NM_000288.4:c.903+153del MANE Select	NP_000279.1:n.903+153del