Canonical Allele Identifier: CA41521644

Gene: RNASEH1

Linked Data

• dbSNP Id: rs901076525
• gnomAD v2: 2-3596567-GA-G
• gnomAD v3: 2-3548977-GA-G
• gnomAD v4: 2-3548977-GA-G
• MyVariant Identifiers: chr2:g.3596568del (hg19) ; chr2:g.3548978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3548986del , CM000664.2:g.3548986del	GRCh38
NC_000002.11:g.3596576del , CM000664.1:g.3596576del	GRCh37
NC_000002.10:g.3574451del	NCBI36
NG_051310.1:g.14394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315212.4:c.564+80del MANE Select	ENSP00000313350.3:n.564+80del
ENST00000654051.1:c.564+80del	ENSP00000499604.1:n.564+80del
ENST00000658393.1:c.564+80del	ENSP00000499330.1:n.564+80del
ENST00000315212.3:c.564+80del	ENSP00000313350.3:n.564+80del
ENST00000436842.5:c.*670+80del	ENSP00000404926.1:n.*670+80del
NM_001286834.1:c.486+80del	NP_001273763.1:n.486+80del
NM_001286837.1:c.213+80del	NP_001273766.1:n.213+80del
NM_002936.4:c.564+80del	NP_002927.2:n.564+80del
XR_244873.1:n.671+80del
XR_922665.1:n.671+80del
XR_922666.1:n.671+80del
XR_922667.1:n.671+80del
XR_922668.1:n.671+80del
XR_922669.1:n.671+80del
XR_922670.1:n.671+80del
XR_922671.1:n.671+80del
XR_922672.1:n.671+80del
XR_922673.1:n.671+80del
XR_922674.1:n.671+80del
NM_001286834.2:c.486+80del	NP_001273763.1:n.486+80del
NM_001286837.2:c.213+80del	NP_001273766.1:n.213+80del
NM_002936.5:c.564+80del	NP_002927.2:n.564+80del
NR_148532.1:n.675+80del
NR_148533.1:n.675+80del
NR_148534.1:n.675+80del
NM_001286837.3:c.213+80del	NP_001273766.1:n.213+80del
NR_148532.2:n.637+80del
NR_148533.2:n.637+80del
NR_148534.2:n.637+80del
NM_001286834.3:c.486+80del	NP_001273763.1:n.486+80del
NM_001378271.1:c.564+80del	NP_001365200.1:n.564+80del
NM_001378272.1:c.561+80del	NP_001365201.1:n.561+80del
NM_001378273.1:c.549+80del	NP_001365202.1:n.549+80del
NM_002936.6:c.564+80del MANE Select	NP_002927.2:n.564+80del
NR_165465.1:n.521+80del
NR_165466.1:n.606+80del
NR_165467.1:n.806+80del
NR_165468.1:n.609+80del