Canonical Allele Identifier: CA323997590
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs1031082601
gnomAD v3: 22-36813369-GA-G
gnomAD v4: 22-36813369-GA-G
MyVariant Identifiers: chr22:g.37209414del (hg19) chr22:g.36813370del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813378del , CM000684.2:g.36813378del GRCh38
NC_000022.10:g.37209422del , CM000684.1:g.37209422del GRCh37
NC_000022.9:g.35539368del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+276del MANE Select ENSP00000400247.2:n.304+276del
ENST00000216200.9:c.304+276del ENSP00000216200.5:n.304+276del
ENST00000404171.1:c.208+276del ENSP00000386089.1:n.208+276del
ENST00000406910.6:c.300+276del
ENST00000417718.6:c.304+276del ENSP00000400247.2:n.304+276del
NM_001315532.1:c.304+276del NP_001302461.1:n.304+276del
NM_002854.2:c.304+276del NP_002845.1:n.304+276del
XM_011530288.1:c.304+276del XP_011528590.1:n.304+276del
NM_001315532.2:c.304+276del MANE Select NP_001302461.1:n.304+276del
NM_002854.3:c.304+276del NP_002845.1:n.304+276del
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