Canonical Allele Identifier: CA1094890223

Gene: PEX7

Linked Data

• dbSNP Id: rs1775194388
• gnomAD v3: 6-136872189-T-TC
• gnomAD v4: 6-136872189-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872189_136872190insC , CM000668.2:g.136872189_136872190insC	GRCh38
NC_000006.11:g.137193327_137193328insC , CM000668.1:g.137193327_137193328insC	GRCh37
NC_000006.10:g.137235020_137235021insC	NCBI36
NG_008462.1:g.54610_54611insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.748-9_748-8insC MANE Select	ENSP00000315680.3:n.748-9_748-8insC
ENST00000541292.6:c.*13-9_*13-8insC	ENSP00000441004.1:n.*13-9_*13-8insC
ENST00000678002.1:c.436-9_436-8insC
ENST00000678557.1:c.634-9_634-8insC	ENSP00000502962.1:n.634-9_634-8insC
ENST00000678593.1:c.753-9_753-8insC	ENSP00000503841.1:n.753-9_753-8insC
ENST00000679286.1:c.628-9_628-8insC	ENSP00000503168.1:n.628-9_628-8insC
ENST00000318471.4:c.748-9_748-8insC	ENSP00000315680.3:n.748-9_748-8insC
NM_000288.3:c.748-9_748-8insC	NP_000279.1:n.748-9_748-8insC
XM_005267019.3:c.634-9_634-8insC	XP_005267076.1:n.634-9_634-8insC
XM_006715502.1:c.454-9_454-8insC	XP_006715565.1:n.454-9_454-8insC
XM_011535900.1:c.527-25953_527-25952insC	XP_011534202.1:n.527-25953_527-25952insC
XM_005267019.4:c.634-9_634-8insC	XP_005267076.1:n.634-9_634-8insC
XM_006715502.2:c.454-9_454-8insC	XP_006715565.1:n.454-9_454-8insC
XM_017010934.2:c.527-25953_527-25952insC	XP_016866423.1:n.527-25953_527-25952insC
NM_000288.4:c.748-9_748-8insC MANE Select	NP_000279.1:n.748-9_748-8insC