Canonical Allele Identifier: CA570743674
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1355964664
gnomAD v2: 6-137143571-GA-G
gnomAD v3: 6-136822433-GA-G
gnomAD v4: 6-136822433-GA-G
MyVariant Identifiers: chr6:g.137143572del (hg19) chr6:g.136822434del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136822434del , CM000668.2:g.136822434del GRCh38
NC_000006.11:g.137143572del , CM000668.1:g.137143572del GRCh37
NC_000006.10:g.137185265del NCBI36
NG_008462.1:g.4855del

Transcript Alleles

HGVS Amino-acid Change
XM_006715502.1:c.-232del XP_006715565.1:n.-232del
XM_011535900.1:c.-232del XP_011534202.1:n.-232del
XM_006715502.2:c.-232del XP_006715565.1:n.-232del
XM_017010934.2:c.-232del XP_016866423.1:n.-232del
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