Canonical Allele Identifier: CA1025503404
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v3: 22-36803673-G-GTGGATGGATGGATGGA
gnomAD v4: 22-36803673-G-GTGGATGGATGGATGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803697_36803712dup , CM000684.2:g.36803697_36803712dup GRCh38
NC_000022.10:g.37199741_37199756dup , CM000684.1:g.37199741_37199756dup GRCh37
NC_000022.9:g.35529687_35529702dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000417718.7:c.305-2771_305-2756dup MANE Select ENSP00000400247.2:n.305-2771_305-2756dup
ENST00000216200.9:c.305-2771_305-2756dup ENSP00000216200.5:n.305-2771_305-2756dup
ENST00000404171.1:c.209-2771_209-2756dup ENSP00000386089.1:n.209-2771_209-2756dup
ENST00000406910.6:c.351-2771_351-2756dup
ENST00000417718.6:c.305-2771_305-2756dup ENSP00000400247.2:n.305-2771_305-2756dup
NM_001315532.1:c.305-2771_305-2756dup NP_001302461.1:n.305-2771_305-2756dup
NM_002854.2:c.305-2771_305-2756dup NP_002845.1:n.305-2771_305-2756dup
NM_001315532.2:c.305-2771_305-2756dup MANE Select NP_001302461.1:n.305-2771_305-2756dup
NM_002854.3:c.305-2771_305-2756dup NP_002845.1:n.305-2771_305-2756dup
Search 100 bp 5'
Search 100 bp 3'