Canonical Allele Identifier: CA1234605930

Gene: RNASEH1

Linked Data

• dbSNP Id: rs1669037908
• gnomAD v4: 2-3549091-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549093del , CM000664.2:g.3549093del	GRCh38
NC_000002.11:g.3596683del , CM000664.1:g.3596683del	GRCh37
NC_000002.10:g.3574558del	NCBI36
NG_051310.1:g.14280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.530del MANE Select	ENSP00000313350.3:p.Pro177LeufsTer?
ENST00000654051.1:c.530del	ENSP00000499604.1:p.Pro177LeufsTer?
ENST00000658393.1:c.530del	ENSP00000499330.1:p.Pro177LeufsTer?
ENST00000315212.3:c.530del	ENSP00000313350.3:p.Pro177LeufsTer?
ENST00000436842.5:c.*636del	ENSP00000404926.1:n.*636del
NM_001286834.1:c.452del	NP_001273763.1:p.Pro151LeufsTer?
NM_001286837.1:c.179del	NP_001273766.1:p.Pro60LeufsTer?
NM_002936.4:c.530del	NP_002927.2:p.Pro177LeufsTer?
XR_244873.1:n.637del
XR_922665.1:n.637del
XR_922666.1:n.637del
XR_922667.1:n.637del
XR_922668.1:n.637del
XR_922669.1:n.637del
XR_922670.1:n.637del
XR_922671.1:n.637del
XR_922672.1:n.637del
XR_922673.1:n.637del
XR_922674.1:n.637del
NM_001286834.2:c.452del	NP_001273763.1:p.Pro151LeufsTer?
NM_001286837.2:c.179del	NP_001273766.1:p.Pro60LeufsTer?
NM_002936.5:c.530del	NP_002927.2:p.Pro177LeufsTer?
NR_148532.1:n.641del
NR_148533.1:n.641del
NR_148534.1:n.641del
NM_001286837.3:c.179del	NP_001273766.1:p.Pro60LeufsTer?
NR_148532.2:n.603del
NR_148533.2:n.603del
NR_148534.2:n.603del
NM_001286834.3:c.452del	NP_001273763.1:p.Pro151LeufsTer?
NM_001378271.1:c.530del	NP_001365200.1:p.Pro177LeufsTer?
NM_001378272.1:c.527del	NP_001365201.1:p.Pro176LeufsTer?
NM_001378273.1:c.515del	NP_001365202.1:p.Pro172LeufsTer?
NM_002936.6:c.530del MANE Select	NP_002927.2:p.Pro177LeufsTer?
NR_165465.1:n.487del
NR_165466.1:n.583-11del
NR_165467.1:n.772del
NR_165468.1:n.575del