Canonical Allele Identifier: CA1094890247

Gene: PEX7

Linked Data

• gnomAD v3: 6-136872201-TCAC-T
• gnomAD v4: 6-136872201-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872204_136872206del , CM000668.2:g.136872204_136872206del	GRCh38
NC_000006.11:g.137193342_137193344del , CM000668.1:g.137193342_137193344del	GRCh37
NC_000006.10:g.137235035_137235037del	NCBI36
NG_008462.1:g.54625_54627del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.754_756del MANE Select	ENSP00000315680.3:p.Pro252del
ENST00000541292.6:c.*19_*21del	ENSP00000441004.1:n.*19_*21del
ENST00000678002.1:c.442_444del
ENST00000678557.1:c.640_642del	ENSP00000502962.1:p.Pro214del
ENST00000678593.1:c.759_761del	ENSP00000503841.1:n.759_761del
ENST00000679286.1:c.634_636del	ENSP00000503168.1:p.Pro212del
ENST00000318471.4:c.754_756del	ENSP00000315680.3:p.Pro252del
NM_000288.3:c.754_756del	NP_000279.1:p.Pro252del
XM_005267019.3:c.640_642del	XP_005267076.1:p.Pro214del
XM_006715502.1:c.460_462del	XP_006715565.1:p.Pro154del
XM_011535900.1:c.527-25938_527-25936del	XP_011534202.1:n.527-25938_527-25936del
XM_005267019.4:c.640_642del	XP_005267076.1:p.Pro214del
XM_006715502.2:c.460_462del	XP_006715565.1:p.Pro154del
XM_017010934.2:c.527-25938_527-25936del	XP_016866423.1:n.527-25938_527-25936del
NM_000288.4:c.754_756del MANE Select	NP_000279.1:p.Pro252del