Canonical Allele Identifier: CA2404045892

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813509_36813510delinsTG , CM000684.2:g.36813509_36813510delinsTG	GRCh38
NC_000022.10:g.37209553_37209554delinsTG , CM000684.1:g.37209553_37209554delinsTG	GRCh37
NC_000022.9:g.35539499_35539500delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+136_304+137delinsCA MANE Select	ENSP00000400247.2:n.304+136_304+137delinsCA
ENST00000216200.9:c.304+136_304+137delinsCA	ENSP00000216200.5:n.304+136_304+137delinsCA
ENST00000404171.1:c.208+136_208+137delinsCA	ENSP00000386089.1:n.208+136_208+137delinsCA
ENST00000406910.6:c.300+136_300+137delinsCA
ENST00000417718.6:c.304+136_304+137delinsCA	ENSP00000400247.2:n.304+136_304+137delinsCA
ENST00000467935.1:n.470_471delinsCA
NM_001315532.1:c.304+136_304+137delinsCA	NP_001302461.1:n.304+136_304+137delinsCA
NM_002854.2:c.304+136_304+137delinsCA	NP_002845.1:n.304+136_304+137delinsCA
XM_011530288.1:c.304+136_304+137delinsCA	XP_011528590.1:n.304+136_304+137delinsCA
NM_001315532.2:c.304+136_304+137delinsCA MANE Select	NP_001302461.1:n.304+136_304+137delinsCA
NM_002854.3:c.304+136_304+137delinsCA	NP_002845.1:n.304+136_304+137delinsCA