Canonical Allele Identifier: CA819535184

Gene: PEX7

Linked Data

• dbSNP Id: rs1385256471
• gnomAD v3: 6-136872110-TATA-T
• gnomAD v4: 6-136872110-TATA-T
• MyVariant Identifiers: chr6:g.137193249_137193251del (hg19) ; chr6:g.136872111_136872113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872113_136872115del , CM000668.2:g.136872113_136872115del	GRCh38
NC_000006.11:g.137193251_137193253del , CM000668.1:g.137193251_137193253del	GRCh37
NC_000006.10:g.137234944_137234946del	NCBI36
NG_008462.1:g.54534_54536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-85_748-83del MANE Select	ENSP00000315680.3:n.748-85_748-83del
ENST00000541292.6:c.*13-85_*13-83del	ENSP00000441004.1:n.*13-85_*13-83del
ENST00000678002.1:c.436-85_436-83del
ENST00000678557.1:c.634-85_634-83del	ENSP00000502962.1:n.634-85_634-83del
ENST00000678593.1:c.753-85_753-83del	ENSP00000503841.1:n.753-85_753-83del
ENST00000679286.1:c.628-85_628-83del	ENSP00000503168.1:n.628-85_628-83del
ENST00000318471.4:c.748-85_748-83del	ENSP00000315680.3:n.748-85_748-83del
NM_000288.3:c.748-85_748-83del	NP_000279.1:n.748-85_748-83del
XM_005267019.3:c.634-85_634-83del	XP_005267076.1:n.634-85_634-83del
XM_006715502.1:c.454-85_454-83del	XP_006715565.1:n.454-85_454-83del
XM_011535900.1:c.526+25932_526+25934del	XP_011534202.1:n.526+25932_526+25934del
XM_005267019.4:c.634-85_634-83del	XP_005267076.1:n.634-85_634-83del
XM_006715502.2:c.454-85_454-83del	XP_006715565.1:n.454-85_454-83del
XM_017010934.2:c.526+25932_526+25934del	XP_016866423.1:n.526+25932_526+25934del
NM_000288.4:c.748-85_748-83del MANE Select	NP_000279.1:n.748-85_748-83del