Canonical Allele Identifier: CA514353147
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs1459128214
gnomAD v2: 22-37199705-A-ATGGG
gnomAD v3: 22-36803661-A-ATGGG
gnomAD v4: 22-36803661-A-ATGGG
MyVariant Identifiers: chr22:g.37199710_37199711insGGGT (hg19) chr22:g.37199709_37199710insTGGG (hg19) chr22:g.37199705_37199706insTGGG (hg19) chr22:g.36803665_36803666insTGGG (hg38) chr22:g.36803661_36803662insTGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803673_36803676dup , CM000684.2:g.36803673_36803676dup GRCh38
NC_000022.10:g.37199717_37199720dup , CM000684.1:g.37199717_37199720dup GRCh37
NC_000022.9:g.35529663_35529666dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000417718.7:c.305-2747_305-2744dup MANE Select ENSP00000400247.2:n.305-2747_305-2744dup
ENST00000216200.9:c.305-2747_305-2744dup ENSP00000216200.5:n.305-2747_305-2744dup
ENST00000404171.1:c.209-2747_209-2744dup ENSP00000386089.1:n.209-2747_209-2744dup
ENST00000406910.6:c.351-2747_351-2744dup
ENST00000417718.6:c.305-2747_305-2744dup ENSP00000400247.2:n.305-2747_305-2744dup
NM_001315532.1:c.305-2747_305-2744dup NP_001302461.1:n.305-2747_305-2744dup
NM_002854.2:c.305-2747_305-2744dup NP_002845.1:n.305-2747_305-2744dup
NM_001315532.2:c.305-2747_305-2744dup MANE Select NP_001302461.1:n.305-2747_305-2744dup
NM_002854.3:c.305-2747_305-2744dup NP_002845.1:n.305-2747_305-2744dup
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