Canonical Allele Identifier: CA2680490348

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898334-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898338del , CM000668.2:g.136898338del	GRCh38
NC_000006.11:g.137219476del , CM000668.1:g.137219476del	GRCh37
NC_000006.10:g.137261169del	NCBI36
NG_008462.1:g.80759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+97del MANE Select	ENSP00000315680.3:n.903+97del
ENST00000541292.6:c.*168+97del	ENSP00000441004.1:n.*168+97del
ENST00000678002.1:c.591+97del
ENST00000678557.1:c.789+97del	ENSP00000502962.1:n.789+97del
ENST00000679286.1:c.783+97del	ENSP00000503168.1:n.783+97del
ENST00000318471.4:c.903+97del	ENSP00000315680.3:n.903+97del
NM_000288.3:c.903+97del	NP_000279.1:n.903+97del
XM_005267019.3:c.789+97del	XP_005267076.1:n.789+97del
XM_006715502.1:c.609+97del	XP_006715565.1:n.609+97del
XM_005267019.4:c.789+97del	XP_005267076.1:n.789+97del
XM_006715502.2:c.609+97del	XP_006715565.1:n.609+97del
XM_017010934.2:c.*26+97del	XP_016866423.1:n.*26+97del
NM_000288.4:c.903+97del MANE Select	NP_000279.1:n.903+97del