Canonical Allele Identifier: CA4467909
Gene: PAX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 358798
ClinVar RCV Id: RCV000272111 RCV001675870
dbSNP Id: rs35434068
ExAC: 7:127251732 T / TA
gnomAD v2: 7-127251732-T-TA
gnomAD v3: 7-127611678-T-TA
gnomAD v4: 7-127611678-T-TA
COSMIC: COSM4426807 COSM4426808
MyVariant Identifiers: chr7:g.127251733dupA (hg19) chr7:g.127251736_127251737insA (hg19) chr7:g.127251734_127251735insA (hg19) chr7:g.127251733_127251734insA (hg19) chr7:g.127251732_127251733insA (hg19) chr7:g.127611679dupA (hg38) chr7:g.127611680_127611681insA (hg38) chr7:g.127611679_127611680insA (hg38) chr7:g.127611678_127611679insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127611689dup , CM000669.2:g.127611689dup GRCh38
NC_000007.13:g.127251743dup , CM000669.1:g.127251743dup GRCh37
NC_000007.12:g.127038979dup NCBI36
NG_012848.1:g.9048dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000639438.3:c.772-3dup MANE Select ENSP00000491782.1:n.772-3dup
ENST00000338516.7:c.772-3dup ENSP00000344297.4:n.772-3dup
ENST00000341640.6:c.748-3dup ENSP00000339906.2:n.748-3dup
ENST00000378740.6:c.748-3dup ENSP00000368014.3:n.748-3dup
ENST00000463946.5:c.742-3dup ENSP00000451923.1:n.742-3dup
ENST00000483494.5:c.*137dup ENSP00000473846.1:n.*137dup
NM_006193.2:c.748-3dup NP_006184.2:n.748-3dup
XM_011516276.1:c.772-3dup XP_011514578.1:n.772-3dup
NM_001366110.1:c.772-3dup MANE Select NP_001353039.1:n.772-3dup
NM_001366111.1:c.772-3dup NP_001353040.1:n.772-3dup
Search 100 bp 5'
Search 100 bp 3'