Canonical Allele Identifier: CA632117042

Gene: PRKCSH

Linked Data

• ClinVar Variation Id: 2575053
• ClinVar RCV Id: RCV003319950
• dbSNP Id: rs1222631173
• gnomAD v2: 19-11557928-TTCTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGG-T
• gnomAD v3: 19-11447113-TTCTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGG-T
• gnomAD v4: 19-11447113-TTCTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGG-T
• MyVariant Identifiers: chr19:g.11557929_11557969del (hg19) ; chr19:g.11447114_11447154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447116_11447156del , CM000681.2:g.11447116_11447156del	GRCh38
NC_000019.9:g.11557931_11557971del , CM000681.1:g.11557931_11557971del	GRCh37
NC_000019.8:g.11418931_11418971del	NCBI36
NG_009300.1:g.16663_16703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.805_845del	ENSP00000465489.1:p.Tyr269ArgfsTer14
ENST00000677123.1:c.805_845del MANE Select	ENSP00000503163.1:p.Tyr269ArgfsTer14
ENST00000585325.5:n.78_118del
ENST00000587327.5:c.805_845del	ENSP00000466012.1:p.Tyr269ArgfsTer14
ENST00000589838.5:c.805_845del	ENSP00000465461.1:p.Tyr269ArgfsTer14
ENST00000591462.5:c.805_845del	ENSP00000465489.1:p.Tyr269ArgfsTer14
ENST00000592445.1:n.52_92del
ENST00000592741.5:c.805_845del	ENSP00000466134.1:p.Tyr269ArgfsTer14
NM_001001329.2:c.805_845del	NP_001001329.1:p.Tyr269ArgfsTer14
NM_001289102.1:c.805_845del	NP_001276031.1:p.Tyr269ArgfsTer14
NM_001289103.1:c.805_845del	NP_001276032.1:p.Tyr269ArgfsTer14
NM_001289104.1:c.805_845del	NP_001276033.1:p.Tyr269ArgfsTer14
NM_002743.3:c.805_845del	NP_002734.2:p.Tyr269ArgfsTer14
XM_011528130.1:c.805_845del	XP_011526432.1:p.Tyr269ArgfsTer14
XM_011528131.1:c.805_845del	XP_011526433.1:p.Tyr269ArgfsTer14
XM_011528132.1:c.805_845del	XP_011526434.1:p.Tyr269ArgfsTer14
XM_017026977.2:c.805_845del	XP_016882466.1:p.Tyr269ArgfsTer14
XM_024451602.1:c.805_845del	XP_024307370.1:p.Tyr269ArgfsTer14
NM_001001329.3:c.805_845del	NP_001001329.1:p.Tyr269ArgfsTer14
NM_001289102.2:c.805_845del	NP_001276031.1:p.Tyr269ArgfsTer14
NM_001289103.2:c.805_845del	NP_001276032.1:p.Tyr269ArgfsTer14
NM_001289104.2:c.805_845del MANE Select	NP_001276033.1:p.Tyr269ArgfsTer14
NM_001379608.1:c.805_845del	NP_001366537.1:p.Tyr269ArgfsTer14
NM_001379609.1:c.805_845del	NP_001366538.1:p.Tyr269ArgfsTer14