Canonical Allele Identifier: CA639614158

Gene: UPK3A

Linked Data

• dbSNP Id: rs1334668863
• gnomAD v2: 22-45689184-CTCAGCCT-C
• gnomAD v4: 22-45293303-CTCAGCCT-C
• MyVariant Identifiers: chr22:g.45689185_45689191del (hg19) ; chr22:g.45293304_45293310del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45293304_45293310del , CM000684.2:g.45293304_45293310del	GRCh38
NC_000022.10:g.45689185_45689191del , CM000684.1:g.45689185_45689191del	GRCh37
NC_000022.9:g.44067849_44067855del	NCBI36
NG_016203.1:g.13318_13324del
NG_016203.2:g.13318_13324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216211.9:c.695_701del MANE Select	ENSP00000216211.4:p.Leu232ProfsTer?
ENST00000216211.8:c.695_701del	ENSP00000216211.4:p.Leu232ProfsTer?
ENST00000396082.2:c.332_338del	ENSP00000379391.2:p.Leu111ProfsTer?
NM_001167574.1:c.332_338del	NP_001161046.1:p.Leu111ProfsTer?
NM_006953.3:c.695_701del	NP_008884.1:p.Leu232ProfsTer?
XM_011530364.1:c.701_707del	XP_011528666.1:p.Leu234ProfsTer?
XM_011530365.1:c.338_344del	XP_011528667.1:p.Leu113ProfsTer?
NM_006953.4:c.695_701del MANE Select	NP_008884.1:p.Leu232ProfsTer?
NM_001167574.2:c.332_338del	NP_001161046.1:p.Leu111ProfsTer?