Canonical Allele Identifier: CA766285688

Gene: USP40

Linked Data

• dbSNP Id: rs1346251604
• gnomAD v3: 2-233513310-ACTTT-A
• gnomAD v4: 2-233513310-ACTTT-A
• MyVariant Identifiers: chr2:g.234421957_234421960del (hg19) ; chr2:g.233513311_233513314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233513314_233513317del , CM000664.2:g.233513314_233513317del	GRCh38
NC_000002.11:g.234421960_234421963del , CM000664.1:g.234421960_234421963del	GRCh37
NC_000002.10:g.234086699_234086702del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000678225.2:c.2384-692_2384-689del MANE Select	ENSP00000502952.1:n.2384-692_2384-689del
ENST00000678225.1:c.2382-690_2382-687del	ENSP00000502952.1:n.2382-690_2382-687del
ENST00000251722.10:c.2381-692_2381-689del	ENSP00000251722.6:n.2381-692_2381-689del
ENST00000427112.6:c.2381-692_2381-689del	ENSP00000387898.2:n.2381-692_2381-689del
ENST00000450966.5:c.2417-692_2417-689del	ENSP00000415434.1:n.2417-692_2417-689del
NM_018218.2:c.2417-692_2417-689del	NP_060688.1:n.2417-692_2417-689del
XM_006712612.2:c.2420-692_2420-689del	XP_006712675.1:n.2420-692_2420-689del
XM_011511396.1:c.2420-692_2420-689del	XP_011509698.1:n.2420-692_2420-689del
XM_011511397.1:c.2384-692_2384-689del	XP_011509699.1:n.2384-692_2384-689del
XM_011511398.1:c.2420-692_2420-689del	XP_011509700.1:n.2420-692_2420-689del
XM_011511399.1:c.2111-692_2111-689del	XP_011509701.1:n.2111-692_2111-689del
XM_011511400.1:c.2000-692_2000-689del	XP_011509702.1:n.2000-692_2000-689del
XM_011511401.1:c.2420-635_2420-632del	XP_011509703.1:n.2420-635_2420-632del
XM_011511402.1:c.866-692_866-689del	XP_011509704.1:n.866-692_866-689del
NM_001365479.1:c.2384-692_2384-689del	NP_001352408.1:n.2384-692_2384-689del
NM_018218.3:c.2381-692_2381-689del	NP_060688.2:n.2381-692_2381-689del
XM_006712612.3:c.2420-692_2420-689del	XP_006712675.1:n.2420-692_2420-689del
XM_011511396.2:c.2420-692_2420-689del	XP_011509698.1:n.2420-692_2420-689del
XM_011511397.2:c.2384-692_2384-689del	XP_011509699.1:n.2384-692_2384-689del
XM_011511398.3:c.2420-692_2420-689del	XP_011509700.1:n.2420-692_2420-689del
XM_011511399.2:c.2111-692_2111-689del	XP_011509701.1:n.2111-692_2111-689del
XM_011511400.2:c.2000-692_2000-689del	XP_011509702.1:n.2000-692_2000-689del
XM_011511401.2:c.2420-635_2420-632del	XP_011509703.1:n.2420-635_2420-632del
XM_017004427.1:c.1349-692_1349-689del	XP_016859916.1:n.1349-692_1349-689del
XM_017004428.1:c.866-692_866-689del	XP_016859917.1:n.866-692_866-689del
XR_001738818.1:n.2435-692_2435-689del
XR_001738819.1:n.2435-692_2435-689del
XR_001738820.1:n.2509-692_2509-689del
NM_001365479.2:c.2384-692_2384-689del MANE Select	NP_001352408.1:n.2384-692_2384-689del
NM_001382295.1:c.2384-692_2384-689del	NP_001369224.1:n.2384-692_2384-689del
NM_001382296.1:c.2384-692_2384-689del	NP_001369225.1:n.2384-692_2384-689del
NM_001382297.1:c.2384-692_2384-689del	NP_001369226.1:n.2384-692_2384-689del
NM_001382298.1:c.2111-692_2111-689del	NP_001369227.1:n.2111-692_2111-689del
NM_001382299.1:c.2228-692_2228-689del	NP_001369228.1:n.2228-692_2228-689del
NM_001382300.1:c.2384-692_2384-689del	NP_001369229.1:n.2384-692_2384-689del
NM_001382301.1:c.2384-692_2384-689del	NP_001369230.1:n.2384-692_2384-689del
NM_018218.4:c.2381-692_2381-689del	NP_060688.2:n.2381-692_2381-689del
NR_168049.1:n.2570-692_2570-689del
NR_168050.1:n.2568-692_2568-689del
NR_168051.1:n.2502-692_2502-689del
NR_168052.1:n.2502-692_2502-689del
NR_168053.1:n.2511-692_2511-689del
NR_168054.1:n.2323-692_2323-689del