Canonical Allele Identifier: CA1025503294

Gene: PVALB

Linked Data

• gnomAD v3: 22-36803576-T-TGGAG
• gnomAD v4: 22-36803576-T-TGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803579_36803580insGGGA , CM000684.2:g.36803579_36803580insGGGA	GRCh38
NC_000022.10:g.37199623_37199624insGGGA , CM000684.1:g.37199623_37199624insGGGA	GRCh37
NC_000022.9:g.35529569_35529570insGGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2659_305-2658insCTCC MANE Select	ENSP00000400247.2:n.305-2659_305-2658insCTCC
ENST00000216200.9:c.305-2659_305-2658insCTCC	ENSP00000216200.5:n.305-2659_305-2658insCTCC
ENST00000404171.1:c.209-2659_209-2658insCTCC	ENSP00000386089.1:n.209-2659_209-2658insCTCC
ENST00000406910.6:c.351-2659_351-2658insCTCC
ENST00000417718.6:c.305-2659_305-2658insCTCC	ENSP00000400247.2:n.305-2659_305-2658insCTCC
NM_001315532.1:c.305-2659_305-2658insCTCC	NP_001302461.1:n.305-2659_305-2658insCTCC
NM_002854.2:c.305-2659_305-2658insCTCC	NP_002845.1:n.305-2659_305-2658insCTCC
NM_001315532.2:c.305-2659_305-2658insCTCC MANE Select	NP_001302461.1:n.305-2659_305-2658insCTCC
NM_002854.3:c.305-2659_305-2658insCTCC	NP_002845.1:n.305-2659_305-2658insCTCC