Canonical Allele Identifier: CA4017739

Gene: PEX7

Linked Data

• dbSNP Id: rs1554334018
• ExAC: 6:137193309 G / GGTT
• gnomAD v2: 6-137193309-G-GGTT
• MyVariant Identifiers: chr6:g.137193309_137193310insGTT (hg19) ; chr6:g.137193310_137193320delinsGTTTTTTTTTTTTC (hg19) ; chr6:g.136872171_136872172insGTT (hg38) ; chr6:g.136872172_136872182delinsGTTTTTTTTTTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872171_136872172insGTT , CM000668.2:g.136872171_136872172insGTT	GRCh38
NC_000006.11:g.137193309_137193310insGTT , CM000668.1:g.137193309_137193310insGTT	GRCh37
NC_000006.10:g.137235002_137235003insGTT	NCBI36
NG_008462.1:g.54592_54593insGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-27_748-26insGTT MANE Select	ENSP00000315680.3:n.748-27_748-26insGTT
ENST00000541292.6:c.*13-27_*13-26insGTT	ENSP00000441004.1:n.*13-27_*13-26insGTT
ENST00000678002.1:c.436-27_436-26insGTT
ENST00000678557.1:c.634-27_634-26insGTT	ENSP00000502962.1:n.634-27_634-26insGTT
ENST00000678593.1:c.753-27_753-26insGTT	ENSP00000503841.1:n.753-27_753-26insGTT
ENST00000679286.1:c.628-27_628-26insGTT	ENSP00000503168.1:n.628-27_628-26insGTT
ENST00000318471.4:c.748-27_748-26insGTT	ENSP00000315680.3:n.748-27_748-26insGTT
NM_000288.3:c.748-27_748-26insGTT	NP_000279.1:n.748-27_748-26insGTT
XM_005267019.3:c.634-27_634-26insGTT	XP_005267076.1:n.634-27_634-26insGTT
XM_006715502.1:c.454-27_454-26insGTT	XP_006715565.1:n.454-27_454-26insGTT
XM_011535900.1:c.527-25971_527-25970insGTT	XP_011534202.1:n.527-25971_527-25970insGT...
XM_005267019.4:c.634-27_634-26insGTT	XP_005267076.1:n.634-27_634-26insGTT
XM_006715502.2:c.454-27_454-26insGTT	XP_006715565.1:n.454-27_454-26insGTT
XM_017010934.2:c.527-25971_527-25970insGTT	XP_016866423.1:n.527-25971_527-25970insGT...
NM_000288.4:c.748-27_748-26insGTT MANE Select	NP_000279.1:n.748-27_748-26insGTT