Canonical Allele Identifier: CA2404041434

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803557_36803558delinsTG , CM000684.2:g.36803557_36803558delinsTG	GRCh38
NC_000022.10:g.37199601_37199602delinsTG , CM000684.1:g.37199601_37199602delinsTG	GRCh37
NC_000022.9:g.35529547_35529548delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2640_305-2639delinsCA MANE Select	ENSP00000400247.2:n.305-2640_305-2639delinsCA
ENST00000216200.9:c.305-2640_305-2639delinsCA	ENSP00000216200.5:n.305-2640_305-2639delinsCA
ENST00000404171.1:c.209-2640_209-2639delinsCA	ENSP00000386089.1:n.209-2640_209-2639delinsCA
ENST00000406910.6:c.351-2640_351-2639delinsCA
ENST00000417718.6:c.305-2640_305-2639delinsCA	ENSP00000400247.2:n.305-2640_305-2639delinsCA
NM_001315532.1:c.305-2640_305-2639delinsCA	NP_001302461.1:n.305-2640_305-2639delinsCA
NM_002854.2:c.305-2640_305-2639delinsCA	NP_002845.1:n.305-2640_305-2639delinsCA
NM_001315532.2:c.305-2640_305-2639delinsCA MANE Select	NP_001302461.1:n.305-2640_305-2639delinsCA
NM_002854.3:c.305-2640_305-2639delinsCA	NP_002845.1:n.305-2640_305-2639delinsCA