Canonical Allele Identifier: CA1094890238

Gene: PEX7

Linked Data

• gnomAD v3: 6-136872197-G-GTTTTTTTTTTTTTTTTT
• gnomAD v4: 6-136872197-G-GTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872201_136872202insTTTTTTTTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTTTTTTTTT	GRCh38
NC_000006.11:g.137193339_137193340insTTTTTTTTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTTTTTTTTT	GRCh37
NC_000006.10:g.137235032_137235033insTTTTTTTTTTTTTTTTT	NCBI36
NG_008462.1:g.54622_54623insTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.751_752insTTTTTTTTTTTTTTTTT MANE Select	ENSP00000315680.3:p.Ser251PhefsTer23
ENST00000541292.6:c.*16_*17insTTTTTTTTTTTTTTTTT	ENSP00000441004.1:n.*16_*17insTTTTTTTTTTT...
ENST00000678002.1:c.439_440insTTTTTTTTTTTTTTTTT
ENST00000678557.1:c.637_638insTTTTTTTTTTTTTTTTT	ENSP00000502962.1:p.Ser213PhefsTer23
ENST00000678593.1:c.756_757insTTTTTTTTTTTTTTTTT	ENSP00000503841.1:n.756_757insTTTTTTTTTTT...
ENST00000679286.1:c.631_632insTTTTTTTTTTTTTTTTT	ENSP00000503168.1:p.Ser211PhefsTer23
ENST00000318471.4:c.751_752insTTTTTTTTTTTTTTTTT	ENSP00000315680.3:p.Ser251PhefsTer23
NM_000288.3:c.751_752insTTTTTTTTTTTTTTTTT	NP_000279.1:p.Ser251PhefsTer23
XM_005267019.3:c.637_638insTTTTTTTTTTTTTTTTT	XP_005267076.1:p.Ser213PhefsTer23
XM_006715502.1:c.457_458insTTTTTTTTTTTTTTTTT	XP_006715565.1:p.Ser153PhefsTer23
XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTTTTTTTTT	XP_011534202.1:n.527-25941_527-25940insTT...
XM_005267019.4:c.637_638insTTTTTTTTTTTTTTTTT	XP_005267076.1:p.Ser213PhefsTer23
XM_006715502.2:c.457_458insTTTTTTTTTTTTTTTTT	XP_006715565.1:p.Ser153PhefsTer23
XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTTTTTTTTT	XP_016866423.1:n.527-25941_527-25940insTT...
NM_000288.4:c.751_752insTTTTTTTTTTTTTTTTT MANE Select	NP_000279.1:p.Ser251PhefsTer23