Canonical Allele Identifier: CA2497184249

Gene: PEX7

Linked Data

• dbSNP Id: rs1775200550

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872448del , CM000668.2:g.136872448del	GRCh38
NC_000006.11:g.137193586del , CM000668.1:g.137193586del	GRCh37
NC_000006.10:g.137235279del	NCBI36
NG_008462.1:g.54869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+195del MANE Select	ENSP00000315680.3:n.803+195del
ENST00000541292.6:c.*68+195del	ENSP00000441004.1:n.*68+195del
ENST00000678002.1:c.491+195del
ENST00000678557.1:c.689+195del	ENSP00000502962.1:n.689+195del
ENST00000678593.1:c.1003del	ENSP00000503841.1:n.1003del
ENST00000679286.1:c.683+195del	ENSP00000503168.1:n.683+195del
ENST00000318471.4:c.803+195del	ENSP00000315680.3:n.803+195del
NM_000288.3:c.803+195del	NP_000279.1:n.803+195del
XM_005267019.3:c.689+195del	XP_005267076.1:n.689+195del
XM_006715502.1:c.509+195del	XP_006715565.1:n.509+195del
XM_011535900.1:c.527-25694del	XP_011534202.1:n.527-25694del
XM_005267019.4:c.689+195del	XP_005267076.1:n.689+195del
XM_006715502.2:c.509+195del	XP_006715565.1:n.509+195del
XM_017010934.2:c.527-25694del	XP_016866423.1:n.527-25694del
NM_000288.4:c.803+195del MANE Select	NP_000279.1:n.803+195del