Canonical Allele Identifier: CA2404041596
Gene: PVALB HGNC NCBI

Linked Data

dbSNP Id: rs1938909881

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803779del , CM000684.2:g.36803779del GRCh38
NC_000022.10:g.37199823del , CM000684.1:g.37199823del GRCh37
NC_000022.9:g.35529769del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.305-2860del MANE Select ENSP00000400247.2:n.305-2860del
ENST00000216200.9:c.305-2860del ENSP00000216200.5:n.305-2860del
ENST00000404171.1:c.209-2860del ENSP00000386089.1:n.209-2860del
ENST00000406910.6:c.351-2860del
ENST00000417718.6:c.305-2860del ENSP00000400247.2:n.305-2860del
NM_001315532.1:c.305-2860del NP_001302461.1:n.305-2860del
NM_002854.2:c.305-2860del NP_002845.1:n.305-2860del
NM_001315532.2:c.305-2860del MANE Select NP_001302461.1:n.305-2860del
NM_002854.3:c.305-2860del NP_002845.1:n.305-2860del