Canonical Allele Identifier: CA2656461016
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v4: 22-36813369-GAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813377_36813378del , CM000684.2:g.36813377_36813378del GRCh38
NC_000022.10:g.37209421_37209422del , CM000684.1:g.37209421_37209422del GRCh37
NC_000022.9:g.35539367_35539368del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+275_304+276del MANE Select ENSP00000400247.2:n.304+275_304+276del
ENST00000216200.9:c.304+275_304+276del ENSP00000216200.5:n.304+275_304+276del
ENST00000404171.1:c.208+275_208+276del ENSP00000386089.1:n.208+275_208+276del
ENST00000406910.6:c.300+275_300+276del
ENST00000417718.6:c.304+275_304+276del ENSP00000400247.2:n.304+275_304+276del
NM_001315532.1:c.304+275_304+276del NP_001302461.1:n.304+275_304+276del
NM_002854.2:c.304+275_304+276del NP_002845.1:n.304+275_304+276del
XM_011530288.1:c.304+275_304+276del XP_011528590.1:n.304+275_304+276del
NM_001315532.2:c.304+275_304+276del MANE Select NP_001302461.1:n.304+275_304+276del
NM_002854.3:c.304+275_304+276del NP_002845.1:n.304+275_304+276del
Search 100 bp 5'
Search 100 bp 3'