Canonical Allele Identifier: CA452228799

Gene: PEX7

Linked Data

• dbSNP Id: rs1418778915
• gnomAD v2: 6-137193375-TATG-T
• gnomAD v4: 6-136872237-TATG-T
• MyVariant Identifiers: chr6:g.137193376_137193378del (hg19) ; chr6:g.136872238_136872240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872240_136872242del , CM000668.2:g.136872240_136872242del	GRCh38
NC_000006.11:g.137193378_137193380del , CM000668.1:g.137193378_137193380del	GRCh37
NC_000006.10:g.137235071_137235073del	NCBI36
NG_008462.1:g.54661_54663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.790_792del MANE Select	ENSP00000315680.3:p.Asp264del
ENST00000541292.6:c.*55_*57del	ENSP00000441004.1:n.*55_*57del
ENST00000678002.1:c.478_480del
ENST00000678557.1:c.676_678del	ENSP00000502962.1:p.Asp226del
ENST00000678593.1:c.795_797del	ENSP00000503841.1:n.795_797del
ENST00000679286.1:c.670_672del	ENSP00000503168.1:p.Asp224del
ENST00000318471.4:c.790_792del	ENSP00000315680.3:p.Asp264del
NM_000288.3:c.790_792del	NP_000279.1:p.Asp264del
XM_005267019.3:c.676_678del	XP_005267076.1:p.Asp226del
XM_006715502.1:c.496_498del	XP_006715565.1:p.Asp166del
XM_011535900.1:c.527-25902_527-25900del	XP_011534202.1:n.527-25902_527-25900del
XM_005267019.4:c.676_678del	XP_005267076.1:p.Asp226del
XM_006715502.2:c.496_498del	XP_006715565.1:p.Asp166del
XM_017010934.2:c.527-25902_527-25900del	XP_016866423.1:n.527-25902_527-25900del
NM_000288.4:c.790_792del MANE Select	NP_000279.1:p.Asp264del