Canonical Allele Identifier: CA2680489753

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866524-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866525dup , CM000668.2:g.136866525dup	GRCh38
NC_000006.11:g.137187663dup , CM000668.1:g.137187663dup	GRCh37
NC_000006.10:g.137229356dup	NCBI36
NG_008462.1:g.48946dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.527-102dup MANE Select	ENSP00000315680.3:n.527-102dup
ENST00000541292.6:c.527-102dup	ENSP00000441004.1:n.527-102dup
ENST00000678002.1:c.215-102dup
ENST00000678557.1:c.413-102dup	ENSP00000502962.1:n.413-102dup
ENST00000678593.1:c.532-102dup	ENSP00000503841.1:n.532-102dup
ENST00000679286.1:c.407-102dup	ENSP00000503168.1:n.407-102dup
ENST00000318471.4:c.527-102dup	ENSP00000315680.3:n.527-102dup
ENST00000541292.5:c.527-102dup	ENSP00000441004.1:n.527-102dup
NM_000288.3:c.527-102dup	NP_000279.1:n.527-102dup
XM_005267019.3:c.413-102dup	XP_005267076.1:n.413-102dup
XM_006715502.1:c.340-3365dup	XP_006715565.1:n.340-3365dup
XM_011535900.1:c.526+20344dup	XP_011534202.1:n.526+20344dup
XM_005267019.4:c.413-102dup	XP_005267076.1:n.413-102dup
XM_006715502.2:c.340-3365dup	XP_006715565.1:n.340-3365dup
XM_017010934.2:c.526+20344dup	XP_016866423.1:n.526+20344dup
NM_000288.4:c.527-102dup MANE Select	NP_000279.1:n.527-102dup