Canonical Allele Identifier: CA2773216351

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898371_136898372insAGA , CM000668.2:g.136898371_136898372insAGA	GRCh38
NC_000006.11:g.137219509_137219510insAGA , CM000668.1:g.137219509_137219510insAGA	GRCh37
NC_000006.10:g.137261202_137261203insAGA	NCBI36
NG_008462.1:g.80792_80793insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+130_903+131insAGA MANE Select	ENSP00000315680.3:n.903+130_903+131insAGA
ENST00000541292.6:c.*168+130_*168+131insAGA	ENSP00000441004.1:n.*168+130_*168+131insAGA
ENST00000678002.1:c.591+130_591+131insAGA
ENST00000678557.1:c.789+130_789+131insAGA	ENSP00000502962.1:n.789+130_789+131insAGA
ENST00000679286.1:c.783+130_783+131insAGA	ENSP00000503168.1:n.783+130_783+131insAGA
ENST00000318471.4:c.903+130_903+131insAGA	ENSP00000315680.3:n.903+130_903+131insAGA
NM_000288.3:c.903+130_903+131insAGA	NP_000279.1:n.903+130_903+131insAGA
XM_005267019.3:c.789+130_789+131insAGA	XP_005267076.1:n.789+130_789+131insAGA
XM_006715502.1:c.609+130_609+131insAGA	XP_006715565.1:n.609+130_609+131insAGA
XM_005267019.4:c.789+130_789+131insAGA	XP_005267076.1:n.789+130_789+131insAGA
XM_006715502.2:c.609+130_609+131insAGA	XP_006715565.1:n.609+130_609+131insAGA
XM_017010934.2:c.*26+130_*26+131insAGA	XP_016866423.1:n.*26+130_*26+131insAGA
NM_000288.4:c.903+130_903+131insAGA MANE Select	NP_000279.1:n.903+130_903+131insAGA