Canonical Allele Identifier: CA2497184529

Gene: PEX7

Linked Data

• dbSNP Id: rs1775691125

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898436_136898437del , CM000668.2:g.136898436_136898437del	GRCh38
NC_000006.11:g.137219574_137219575del , CM000668.1:g.137219574_137219575del	GRCh37
NC_000006.10:g.137261267_137261268del	NCBI36
NG_008462.1:g.80857_80858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+195_903+196del MANE Select	ENSP00000315680.3:n.903+195_903+196del
ENST00000541292.6:c.*168+195_*168+196del	ENSP00000441004.1:n.*168+195_*168+196del
ENST00000678002.1:c.591+195_591+196del
ENST00000678557.1:c.789+195_789+196del	ENSP00000502962.1:n.789+195_789+196del
ENST00000679286.1:c.783+195_783+196del	ENSP00000503168.1:n.783+195_783+196del
ENST00000318471.4:c.903+195_903+196del	ENSP00000315680.3:n.903+195_903+196del
NM_000288.3:c.903+195_903+196del	NP_000279.1:n.903+195_903+196del
XM_005267019.3:c.789+195_789+196del	XP_005267076.1:n.789+195_789+196del
XM_006715502.1:c.609+195_609+196del	XP_006715565.1:n.609+195_609+196del
XM_005267019.4:c.789+195_789+196del	XP_005267076.1:n.789+195_789+196del
XM_006715502.2:c.609+195_609+196del	XP_006715565.1:n.609+195_609+196del
XM_017010934.2:c.*26+195_*26+196del	XP_016866423.1:n.*26+195_*26+196del
NM_000288.4:c.903+195_903+196del MANE Select	NP_000279.1:n.903+195_903+196del