Canonical Allele Identifier: CA2578751938

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898136-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898139_136898140del , CM000668.2:g.136898139_136898140del	GRCh38
NC_000006.11:g.137219277_137219278del , CM000668.1:g.137219277_137219278del	GRCh37
NC_000006.10:g.137260970_137260971del	NCBI36
NG_008462.1:g.80560_80561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.804-3_804-2del MANE Select	ENSP00000315680.3:n.804-3_804-2del
ENST00000541292.6:c.*69-3_*69-2del	ENSP00000441004.1:n.*69-3_*69-2del
ENST00000678002.1:c.492-3_492-2del
ENST00000678557.1:c.690-3_690-2del	ENSP00000502962.1:n.690-3_690-2del
ENST00000679286.1:c.684-3_684-2del	ENSP00000503168.1:n.684-3_684-2del
ENST00000318471.4:c.804-3_804-2del	ENSP00000315680.3:n.804-3_804-2del
NM_000288.3:c.804-3_804-2del	NP_000279.1:n.804-3_804-2del
XM_005267019.3:c.690-3_690-2del	XP_005267076.1:n.690-3_690-2del
XM_006715502.1:c.510-3_510-2del	XP_006715565.1:n.510-3_510-2del
XM_011535900.1:c.527-3_527-2del	XP_011534202.1:n.527-3_527-2del
XM_005267019.4:c.690-3_690-2del	XP_005267076.1:n.690-3_690-2del
XM_006715502.2:c.510-3_510-2del	XP_006715565.1:n.510-3_510-2del
XM_017010934.2:c.527-3_527-2del	XP_016866423.1:n.527-3_527-2del
NM_000288.4:c.804-3_804-2del MANE Select	NP_000279.1:n.804-3_804-2del