Canonical Allele Identifier: CA1094888311

Gene: PEX7

Linked Data

• dbSNP Id: rs1774184752
• gnomAD v3: 6-136826107-TGG-T
• gnomAD v4: 6-136826107-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826108_136826109del , CM000668.2:g.136826108_136826109del	GRCh38
NC_000006.11:g.137147246_137147247del , CM000668.1:g.137147246_137147247del	GRCh37
NC_000006.10:g.137188939_137188940del	NCBI36
NG_008462.1:g.8529_8530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-211_189-210del MANE Select	ENSP00000315680.3:n.189-211_189-210del
ENST00000541292.6:c.189-211_189-210del	ENSP00000441004.1:n.189-211_189-210del
ENST00000678002.1:c.59-206_59-205del
ENST00000678557.1:c.75-211_75-210del	ENSP00000502962.1:n.75-211_75-210del
ENST00000678593.1:c.189-206_189-205del	ENSP00000503841.1:n.189-206_189-205del
ENST00000679286.1:c.69-211_69-210del	ENSP00000503168.1:n.69-211_69-210del
ENST00000318471.4:c.189-211_189-210del	ENSP00000315680.3:n.189-211_189-210del
ENST00000367756.8:c.189-211_189-210del	ENSP00000356730.4:n.189-211_189-210del
ENST00000541292.5:c.189-211_189-210del	ENSP00000441004.1:n.189-211_189-210del
NM_000288.3:c.189-211_189-210del	NP_000279.1:n.189-211_189-210del
XM_005267019.3:c.75-211_75-210del	XP_005267076.1:n.75-211_75-210del
XM_006715502.1:c.189-211_189-210del	XP_006715565.1:n.189-211_189-210del
XM_011535900.1:c.189-211_189-210del	XP_011534202.1:n.189-211_189-210del
XM_005267019.4:c.75-211_75-210del	XP_005267076.1:n.75-211_75-210del
XM_006715502.2:c.189-211_189-210del	XP_006715565.1:n.189-211_189-210del
XM_017010934.2:c.189-211_189-210del	XP_016866423.1:n.189-211_189-210del
NM_000288.4:c.189-211_189-210del MANE Select	NP_000279.1:n.189-211_189-210del