Canonical Allele Identifier: CA751912288

Gene: PIWIL3

Linked Data

• dbSNP Id: rs1197848150
• gnomAD v3: 22-24748846-CCT-C
• gnomAD v4: 22-24748846-CCT-C
• MyVariant Identifiers: chr22:g.25144814_25144815del (hg19) ; chr22:g.24748847_24748848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24748847_24748848del , CM000684.2:g.24748847_24748848del	GRCh38
NC_000022.10:g.25144814_25144815del , CM000684.1:g.25144814_25144815del	GRCh37
NC_000022.9:g.23474814_23474815del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527701.6:c.*1421+59_*1421+60del	ENSP00000435718.2:n.*1421+59_*1421+60del
ENST00000533313.6:c.*1375+59_*1375+60del	ENSP00000431843.2:n.*1375+59_*1375+60del
ENST00000616349.5:c.1449+59_1449+60del MANE Select	ENSP00000479524.2:n.1449+59_1449+60del
ENST00000332271.9:c.1449+59_1449+60del	ENSP00000330031.5:n.1449+59_1449+60del
ENST00000527701.5:c.1122+59_1122+60del	ENSP00000435718.1:n.1122+59_1122+60del
ENST00000532537.2:n.1870+59_1870+60del
ENST00000533313.5:c.1122+59_1122+60del	ENSP00000431843.1:n.1122+59_1122+60del
ENST00000616349.4:c.1449+59_1449+60del	ENSP00000479524.1:n.1449+59_1449+60del
NM_001008496.3:c.1449+59_1449+60del	NP_001008496.2:n.1449+59_1449+60del
NM_001255975.1:c.1449+59_1449+60del MANE Select	NP_001242904.1:n.1449+59_1449+60del
NR_045648.1:n.2080+59_2080+60del
NR_045649.1:n.1953+59_1953+60del
NR_045649.2:n.1953+59_1953+60del