Canonical Allele Identifier: CA639158639

Gene: PVALB

Linked Data

• dbSNP Id: rs1569090044
• gnomAD v2: 22-37199705-A-ATGGT
• gnomAD v3: 22-36803661-A-ATGGT
• gnomAD v4: 22-36803661-A-ATGGT
• MyVariant Identifiers: chr22:g.37199709delinsTTGGG (hg19) ; chr22:g.36803665delinsTTGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803664_36803665insTTGG , CM000684.2:g.36803664_36803665insTTGG	GRCh38
NC_000022.10:g.37199708_37199709insTTGG , CM000684.1:g.37199708_37199709insTTGG	GRCh37
NC_000022.9:g.35529654_35529655insTTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2744_305-2743insACCA MANE Select	ENSP00000400247.2:n.305-2744_305-2743insACCA
ENST00000216200.9:c.305-2744_305-2743insACCA	ENSP00000216200.5:n.305-2744_305-2743insACCA
ENST00000404171.1:c.209-2744_209-2743insACCA	ENSP00000386089.1:n.209-2744_209-2743insACCA
ENST00000406910.6:c.351-2744_351-2743insACCA
ENST00000417718.6:c.305-2744_305-2743insACCA	ENSP00000400247.2:n.305-2744_305-2743insACCA
NM_001315532.1:c.305-2744_305-2743insACCA	NP_001302461.1:n.305-2744_305-2743insACCA
NM_002854.2:c.305-2744_305-2743insACCA	NP_002845.1:n.305-2744_305-2743insACCA
NM_001315532.2:c.305-2744_305-2743insACCA MANE Select	NP_001302461.1:n.305-2744_305-2743insACCA
NM_002854.3:c.305-2744_305-2743insACCA	NP_002845.1:n.305-2744_305-2743insACCA