Canonical Allele Identifier: CA570574064

Gene: PEX7

Linked Data

• gnomAD v2: 6-137193335-G-GTTTTTTTTTTTTTTTT
• MyVariant Identifiers: chr6:g.137193335_137193336insTTTTTTTTTTTTTTTT (hg19) ; chr6:g.136872197_136872198insTTTTTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872201_136872202insTTTTTTTTTTTTTTTT , CM000668.2:g.136872201_136872202insTTTTTTTTTTTTTTTT	GRCh38
NC_000006.11:g.137193339_137193340insTTTTTTTTTTTTTTTT , CM000668.1:g.137193339_137193340insTTTTTTTTTTTTTTTT	GRCh37
NC_000006.10:g.137235032_137235033insTTTTTTTTTTTTTTTT	NCBI36
NG_008462.1:g.54622_54623insTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.751_752insTTTTTTTTTTTTTTTT MANE Select	ENSP00000315680.3:p.Ser251PhefsTer19
ENST00000541292.6:c.*16_*17insTTTTTTTTTTTTTTTT	ENSP00000441004.1:n.*16_*17insTTTTTTTTTTT...
ENST00000678002.1:c.439_440insTTTTTTTTTTTTTTTT
ENST00000678557.1:c.637_638insTTTTTTTTTTTTTTTT	ENSP00000502962.1:p.Ser213PhefsTer19
ENST00000678593.1:c.756_757insTTTTTTTTTTTTTTTT	ENSP00000503841.1:n.756_757insTTTTTTTTTTT...
ENST00000679286.1:c.631_632insTTTTTTTTTTTTTTTT	ENSP00000503168.1:p.Ser211PhefsTer19
ENST00000318471.4:c.751_752insTTTTTTTTTTTTTTTT	ENSP00000315680.3:p.Ser251PhefsTer19
NM_000288.3:c.751_752insTTTTTTTTTTTTTTTT	NP_000279.1:p.Ser251PhefsTer19
XM_005267019.3:c.637_638insTTTTTTTTTTTTTTTT	XP_005267076.1:p.Ser213PhefsTer19
XM_006715502.1:c.457_458insTTTTTTTTTTTTTTTT	XP_006715565.1:p.Ser153PhefsTer19
XM_011535900.1:c.527-25941_527-25940insTTTTTTTTTTTTTTTT	XP_011534202.1:n.527-25941_527-25940insTT...
XM_005267019.4:c.637_638insTTTTTTTTTTTTTTTT	XP_005267076.1:p.Ser213PhefsTer19
XM_006715502.2:c.457_458insTTTTTTTTTTTTTTTT	XP_006715565.1:p.Ser153PhefsTer19
XM_017010934.2:c.527-25941_527-25940insTTTTTTTTTTTTTTTT	XP_016866423.1:n.527-25941_527-25940insTT...
NM_000288.4:c.751_752insTTTTTTTTTTTTTTTT MANE Select	NP_000279.1:p.Ser251PhefsTer19