Canonical Allele Identifier: CA8504863
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs779100543
ExAC: 17:33903238 CTT / C
gnomAD v2: 17-33903238-CTT-C
gnomAD v3: 17-35576219-CTT-C
gnomAD v4: 17-35576219-CTT-C
MyVariant Identifiers: chr17:g.33903239_33903240del (hg19) chr17:g.33903240_33903242delinsA (hg19) chr17:g.35576221_35576222del (hg38) chr17:g.35576220_35576221del (hg38) chr17:g.35576221_35576223delinsA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35576221_35576222del , CM000679.2:g.35576221_35576222del GRCh38
NC_000017.10:g.33903240_33903241del , CM000679.1:g.33903240_33903241del GRCh37
NC_000017.9:g.30927353_30927354del NCBI36
NG_008447.1:g.7417_7418del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225873.9:c.681-40_681-39del MANE Select ENSP00000225873.3:n.681-40_681-39del
ENST00000586663.2:c.681-40_681-39del ENSP00000466894.2:n.681-40_681-39del
ENST00000225873.8:c.681-40_681-39del ENSP00000225873.3:n.681-40_681-39del
ENST00000586663.1:c.681-40_681-39del ENSP00000466894.1:n.681-40_681-39del
ENST00000613219.4:c.681-40_681-39del ENSP00000482609.1:n.681-40_681-39del
NM_000286.2:c.681-40_681-39del NP_000277.1:n.681-40_681-39del
NM_000286.3:c.681-40_681-39del MANE Select NP_000277.1:n.681-40_681-39del
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