Canonical Allele Identifier: CA2680489953

Gene: PEX7

Linked Data

• gnomAD v4: 6-136869916-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869918_136869919del , CM000668.2:g.136869918_136869919del	GRCh38
NC_000006.11:g.137191056_137191057del , CM000668.1:g.137191056_137191057del	GRCh37
NC_000006.10:g.137232749_137232750del	NCBI36
NG_008462.1:g.52339_52340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.662_663del MANE Select	ENSP00000315680.3:p.Cys221Ter
ENST00000541292.6:c.662_663del	ENSP00000441004.1:p.Cys221Ter
ENST00000678002.1:c.350_351del
ENST00000678557.1:c.548_549del	ENSP00000502962.1:p.Cys183Ter
ENST00000678593.1:c.667_668del	ENSP00000503841.1:n.667_668del
ENST00000679286.1:c.542_543del	ENSP00000503168.1:p.Cys181Ter
ENST00000318471.4:c.662_663del	ENSP00000315680.3:p.Cys221Ter
ENST00000541292.5:c.662_663del	ENSP00000441004.1:p.Cys221Ter
NM_000288.3:c.662_663del	NP_000279.1:p.Cys221Ter
XM_005267019.3:c.548_549del	XP_005267076.1:p.Cys183Ter
XM_006715502.1:c.368_369del	XP_006715565.1:p.Cys123Ter
XM_011535900.1:c.526+23737_526+23738del	XP_011534202.1:n.526+23737_526+23738del
XM_005267019.4:c.548_549del	XP_005267076.1:p.Cys183Ter
XM_006715502.2:c.368_369del	XP_006715565.1:p.Cys123Ter
XM_017010934.2:c.526+23737_526+23738del	XP_016866423.1:n.526+23737_526+23738del
NM_000288.4:c.662_663del MANE Select	NP_000279.1:p.Cys221Ter