Canonical Allele Identifier: CA2656461107
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v4: 22-36813411-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36813416dup , CM000684.2:g.36813416dup GRCh38
NC_000022.10:g.37209460dup , CM000684.1:g.37209460dup GRCh37
NC_000022.9:g.35539406dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.304+234dup MANE Select ENSP00000400247.2:n.304+234dup
ENST00000216200.9:c.304+234dup ENSP00000216200.5:n.304+234dup
ENST00000404171.1:c.208+234dup ENSP00000386089.1:n.208+234dup
ENST00000406910.6:c.300+234dup
ENST00000417718.6:c.304+234dup ENSP00000400247.2:n.304+234dup
NM_001315532.1:c.304+234dup NP_001302461.1:n.304+234dup
NM_002854.2:c.304+234dup NP_002845.1:n.304+234dup
XM_011530288.1:c.304+234dup XP_011528590.1:n.304+234dup
NM_001315532.2:c.304+234dup MANE Select NP_001302461.1:n.304+234dup
NM_002854.3:c.304+234dup NP_002845.1:n.304+234dup
Search 100 bp 5'
Search 100 bp 3'