Canonical Allele Identifier: CA2680490740

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872288-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872290del , CM000668.2:g.136872290del	GRCh38
NC_000006.11:g.137193428del , CM000668.1:g.137193428del	GRCh37
NC_000006.10:g.137235121del	NCBI36
NG_008462.1:g.54711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+37del MANE Select	ENSP00000315680.3:n.803+37del
ENST00000541292.6:c.*68+37del	ENSP00000441004.1:n.*68+37del
ENST00000678002.1:c.491+37del
ENST00000678557.1:c.689+37del	ENSP00000502962.1:n.689+37del
ENST00000678593.1:c.845del	ENSP00000503841.1:n.845del
ENST00000679286.1:c.683+37del	ENSP00000503168.1:n.683+37del
ENST00000318471.4:c.803+37del	ENSP00000315680.3:n.803+37del
NM_000288.3:c.803+37del	NP_000279.1:n.803+37del
XM_005267019.3:c.689+37del	XP_005267076.1:n.689+37del
XM_006715502.1:c.509+37del	XP_006715565.1:n.509+37del
XM_011535900.1:c.527-25852del	XP_011534202.1:n.527-25852del
XM_005267019.4:c.689+37del	XP_005267076.1:n.689+37del
XM_006715502.2:c.509+37del	XP_006715565.1:n.509+37del
XM_017010934.2:c.527-25852del	XP_016866423.1:n.527-25852del
NM_000288.4:c.803+37del MANE Select	NP_000279.1:n.803+37del