Canonical Allele Identifier: CA2680489793

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866606-TCAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866607_136866610del , CM000668.2:g.136866607_136866610del	GRCh38
NC_000006.11:g.137187745_137187748del , CM000668.1:g.137187745_137187748del	GRCh37
NC_000006.10:g.137229438_137229441del	NCBI36
NG_008462.1:g.49028_49031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.527-20_527-17del MANE Select	ENSP00000315680.3:n.527-20_527-17del
ENST00000541292.6:c.527-20_527-17del	ENSP00000441004.1:n.527-20_527-17del
ENST00000678002.1:c.215-20_215-17del
ENST00000678557.1:c.413-20_413-17del	ENSP00000502962.1:n.413-20_413-17del
ENST00000678593.1:c.532-20_532-17del	ENSP00000503841.1:n.532-20_532-17del
ENST00000679286.1:c.407-20_407-17del	ENSP00000503168.1:n.407-20_407-17del
ENST00000318471.4:c.527-20_527-17del	ENSP00000315680.3:n.527-20_527-17del
ENST00000541292.5:c.527-20_527-17del	ENSP00000441004.1:n.527-20_527-17del
NM_000288.3:c.527-20_527-17del	NP_000279.1:n.527-20_527-17del
XM_005267019.3:c.413-20_413-17del	XP_005267076.1:n.413-20_413-17del
XM_006715502.1:c.340-3283_340-3280del	XP_006715565.1:n.340-3283_340-3280del
XM_011535900.1:c.526+20426_526+20429del	XP_011534202.1:n.526+20426_526+20429del
XM_005267019.4:c.413-20_413-17del	XP_005267076.1:n.413-20_413-17del
XM_006715502.2:c.340-3283_340-3280del	XP_006715565.1:n.340-3283_340-3280del
XM_017010934.2:c.526+20426_526+20429del	XP_016866423.1:n.526+20426_526+20429del
NM_000288.4:c.527-20_527-17del MANE Select	NP_000279.1:n.527-20_527-17del