Canonical Allele Identifier: CA550722996

Gene: WDR19

Linked Data

• dbSNP Id: rs587777348
• gnomAD v2: 4-39206803-GT-G
• gnomAD v3: 4-39205183-GT-G
• gnomAD v4: 4-39205183-GT-G
• COSMIC: COSM2846526
• MyVariant Identifiers: chr4:g.39206804del (hg19) ; chr4:g.39205184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205191del , CM000666.2:g.39205191del	GRCh38
NC_000004.11:g.39206811del , CM000666.1:g.39206811del	GRCh37
NC_000004.10:g.38883206del	NCBI36
NG_031813.1:g.27788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.641del MANE Select	ENSP00000382717.3:p.Leu214Ter
ENST00000399820.7:c.641del	ENSP00000382717.3:p.Leu214Ter
ENST00000503697.5:c.*109del	ENSP00000423706.1:n.*109del
ENST00000505055.5:c.*222del	ENSP00000425949.1:n.*222del
ENST00000506503.1:c.641del	ENSP00000423491.1:p.Leu214Ter
ENST00000506869.5:c.*222del	ENSP00000424319.1:n.*222del
ENST00000511729.5:n.40+22628del
ENST00000512448.1:n.235del
NM_025132.3:c.641del	NP_079408.3:p.Leu214Ter
XM_011513724.1:c.641del	XP_011512026.1:p.Leu214Ter
XM_011513725.1:c.575del	XP_011512027.1:p.Leu192Ter
XM_011513726.1:c.161del	XP_011512028.1:p.Leu54Ter
XM_011513727.1:c.161del	XP_011512029.1:p.Leu54Ter
XM_011513728.1:c.161del	XP_011512030.1:p.Leu54Ter
XM_011513729.1:c.641del	XP_011512031.1:p.Leu214Ter
XR_925155.1:n.705del
NM_001317924.1:c.161del	NP_001304853.1:p.Leu54Ter
XM_011513725.2:c.575del	XP_011512027.1:p.Leu192Ter
XM_011513726.3:c.161del	XP_011512028.1:p.Leu54Ter
XM_017008501.1:c.161del	XP_016863990.1:p.Leu54Ter
XR_001741306.1:n.705del
XR_001741307.1:n.705del
XR_001741308.1:n.705del
XR_001741309.1:n.705del
XR_001741310.1:n.705del
XR_001741311.2:n.554del
XR_001741312.1:n.705del
NM_025132.4:c.641del MANE Select	NP_079408.3:p.Leu214Ter
NM_001317924.2:c.161del	NP_001304853.1:p.Leu54Ter