Canonical Allele Identifier: CA148202884

Gene: PEX7

Linked Data

• dbSNP Id: rs200797727
• gnomAD v2: 6-137193778-CAATG-C
• gnomAD v3: 6-136872640-CAATG-C
• gnomAD v4: 6-136872640-CAATG-C
• MyVariant Identifiers: chr6:g.137193779_137193782del (hg19) ; chr6:g.136872641_136872644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872643_136872646del , CM000668.2:g.136872643_136872646del	GRCh38
NC_000006.11:g.137193781_137193784del , CM000668.1:g.137193781_137193784del	GRCh37
NC_000006.10:g.137235474_137235477del	NCBI36
NG_008462.1:g.55064_55067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+390_803+393del MANE Select	ENSP00000315680.3:n.803+390_803+393del
ENST00000541292.6:c.*68+390_*68+393del	ENSP00000441004.1:n.*68+390_*68+393del
ENST00000678002.1:c.491+390_491+393del
ENST00000678557.1:c.689+390_689+393del	ENSP00000502962.1:n.689+390_689+393del
ENST00000678593.1:c.1198_1201del	ENSP00000503841.1:n.1198_1201del
ENST00000679286.1:c.683+390_683+393del	ENSP00000503168.1:n.683+390_683+393del
ENST00000318471.4:c.803+390_803+393del	ENSP00000315680.3:n.803+390_803+393del
NM_000288.3:c.803+390_803+393del	NP_000279.1:n.803+390_803+393del
XM_005267019.3:c.689+390_689+393del	XP_005267076.1:n.689+390_689+393del
XM_006715502.1:c.509+390_509+393del	XP_006715565.1:n.509+390_509+393del
XM_011535900.1:c.527-25499_527-25496del	XP_011534202.1:n.527-25499_527-25496del
XM_005267019.4:c.689+390_689+393del	XP_005267076.1:n.689+390_689+393del
XM_006715502.2:c.509+390_509+393del	XP_006715565.1:n.509+390_509+393del
XM_017010934.2:c.527-25499_527-25496del	XP_016866423.1:n.527-25499_527-25496del
NM_000288.4:c.803+390_803+393del MANE Select	NP_000279.1:n.803+390_803+393del