Canonical Allele Identifier: CA916461307

Gene: RNASEH1

Linked Data

• dbSNP Id: rs1572302183
• gnomAD v4: 2-3548984-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3548987_3548989del , CM000664.2:g.3548987_3548989del	GRCh38
NC_000002.11:g.3596577_3596579del , CM000664.1:g.3596577_3596579del	GRCh37
NC_000002.10:g.3574452_3574454del	NCBI36
NG_051310.1:g.14385_14387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000315212.4:c.564+71_564+73del MANE Select	ENSP00000313350.3:n.564+71_564+73del
ENST00000654051.1:c.564+71_564+73del	ENSP00000499604.1:n.564+71_564+73del
ENST00000658393.1:c.564+71_564+73del	ENSP00000499330.1:n.564+71_564+73del
ENST00000315212.3:c.564+71_564+73del	ENSP00000313350.3:n.564+71_564+73del
ENST00000436842.5:c.*670+71_*670+73del	ENSP00000404926.1:n.*670+71_*670+73del
NM_001286834.1:c.486+71_486+73del	NP_001273763.1:n.486+71_486+73del
NM_001286837.1:c.213+71_213+73del	NP_001273766.1:n.213+71_213+73del
NM_002936.4:c.564+71_564+73del	NP_002927.2:n.564+71_564+73del
XR_244873.1:n.671+71_671+73del
XR_922665.1:n.671+71_671+73del
XR_922666.1:n.671+71_671+73del
XR_922667.1:n.671+71_671+73del
XR_922668.1:n.671+71_671+73del
XR_922669.1:n.671+71_671+73del
XR_922670.1:n.671+71_671+73del
XR_922671.1:n.671+71_671+73del
XR_922672.1:n.671+71_671+73del
XR_922673.1:n.671+71_671+73del
XR_922674.1:n.671+71_671+73del
NM_001286834.2:c.486+71_486+73del	NP_001273763.1:n.486+71_486+73del
NM_001286837.2:c.213+71_213+73del	NP_001273766.1:n.213+71_213+73del
NM_002936.5:c.564+71_564+73del	NP_002927.2:n.564+71_564+73del
NR_148532.1:n.675+71_675+73del
NR_148533.1:n.675+71_675+73del
NR_148534.1:n.675+71_675+73del
NM_001286837.3:c.213+71_213+73del	NP_001273766.1:n.213+71_213+73del
NR_148532.2:n.637+71_637+73del
NR_148533.2:n.637+71_637+73del
NR_148534.2:n.637+71_637+73del
NM_001286834.3:c.486+71_486+73del	NP_001273763.1:n.486+71_486+73del
NM_001378271.1:c.564+71_564+73del	NP_001365200.1:n.564+71_564+73del
NM_001378272.1:c.561+71_561+73del	NP_001365201.1:n.561+71_561+73del
NM_001378273.1:c.549+71_549+73del	NP_001365202.1:n.549+71_549+73del
NM_002936.6:c.564+71_564+73del MANE Select	NP_002927.2:n.564+71_564+73del
NR_165465.1:n.521+71_521+73del
NR_165466.1:n.606+71_606+73del
NR_165467.1:n.806+71_806+73del
NR_165468.1:n.609+71_609+73del