Canonical Allele Identifier: CA148202315

Gene: PEX7

Linked Data

• dbSNP Id: rs1554334007
• MyVariant Identifiers: chr6:g.137193134_137193135insA (hg19) ; chr6:g.136871996_136871997insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136871996_136871997insA , CM000668.2:g.136871996_136871997insA	GRCh38
NC_000006.11:g.137193134_137193135insA , CM000668.1:g.137193134_137193135insA	GRCh37
NC_000006.10:g.137234827_137234828insA	NCBI36
NG_008462.1:g.54417_54418insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.748-202_748-201insA MANE Select	ENSP00000315680.3:n.748-202_748-201insA
ENST00000541292.6:c.*13-202_*13-201insA	ENSP00000441004.1:n.*13-202_*13-201insA
ENST00000678002.1:c.436-202_436-201insA
ENST00000678557.1:c.634-202_634-201insA	ENSP00000502962.1:n.634-202_634-201insA
ENST00000678593.1:c.753-202_753-201insA	ENSP00000503841.1:n.753-202_753-201insA
ENST00000679286.1:c.628-202_628-201insA	ENSP00000503168.1:n.628-202_628-201insA
ENST00000318471.4:c.748-202_748-201insA	ENSP00000315680.3:n.748-202_748-201insA
NM_000288.3:c.748-202_748-201insA	NP_000279.1:n.748-202_748-201insA
XM_005267019.3:c.634-202_634-201insA	XP_005267076.1:n.634-202_634-201insA
XM_006715502.1:c.454-202_454-201insA	XP_006715565.1:n.454-202_454-201insA
XM_011535900.1:c.526+25815_526+25816insA	XP_011534202.1:n.526+25815_526+25816insA
XM_005267019.4:c.634-202_634-201insA	XP_005267076.1:n.634-202_634-201insA
XM_006715502.2:c.454-202_454-201insA	XP_006715565.1:n.454-202_454-201insA
XM_017010934.2:c.526+25815_526+25816insA	XP_016866423.1:n.526+25815_526+25816insA
NM_000288.4:c.748-202_748-201insA MANE Select	NP_000279.1:n.748-202_748-201insA