Canonical Allele Identifier: CA2680490688

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872172-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872172_136872173insC , CM000668.2:g.136872172_136872173insC	GRCh38
NC_000006.11:g.137193310_137193311insC , CM000668.1:g.137193310_137193311insC	GRCh37
NC_000006.10:g.137235003_137235004insC	NCBI36
NG_008462.1:g.54593_54594insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.748-26_748-25insC MANE Select	ENSP00000315680.3:n.748-26_748-25insC
ENST00000541292.6:c.*13-26_*13-25insC	ENSP00000441004.1:n.*13-26_*13-25insC
ENST00000678002.1:c.436-26_436-25insC
ENST00000678557.1:c.634-26_634-25insC	ENSP00000502962.1:n.634-26_634-25insC
ENST00000678593.1:c.753-26_753-25insC	ENSP00000503841.1:n.753-26_753-25insC
ENST00000679286.1:c.628-26_628-25insC	ENSP00000503168.1:n.628-26_628-25insC
ENST00000318471.4:c.748-26_748-25insC	ENSP00000315680.3:n.748-26_748-25insC
NM_000288.3:c.748-26_748-25insC	NP_000279.1:n.748-26_748-25insC
XM_005267019.3:c.634-26_634-25insC	XP_005267076.1:n.634-26_634-25insC
XM_006715502.1:c.454-26_454-25insC	XP_006715565.1:n.454-26_454-25insC
XM_011535900.1:c.527-25970_527-25969insC	XP_011534202.1:n.527-25970_527-25969insC
XM_005267019.4:c.634-26_634-25insC	XP_005267076.1:n.634-26_634-25insC
XM_006715502.2:c.454-26_454-25insC	XP_006715565.1:n.454-26_454-25insC
XM_017010934.2:c.527-25970_527-25969insC	XP_016866423.1:n.527-25970_527-25969insC
NM_000288.4:c.748-26_748-25insC MANE Select	NP_000279.1:n.748-26_748-25insC