Canonical Allele Identifier: CA6107539

Gene: RNASEH2C KAT5

Linked Data

• ClinVar Variation Id: 305339
• ClinVar RCV Id: RCV001764273 ; RCV002502206
• dbSNP Id: rs142614068
• ExAC: 11:65486305 T / TA
• gnomAD v2: 11-65486305-T-TA
• gnomAD v3: 11-65718834-T-TA
• gnomAD v4: 11-65718834-T-TA
• MyVariant Identifiers: chr11:g.65486306dupA (hg19) ; chr11:g.65486305_65486306insA (hg19) ; chr11:g.65718835dupA (hg38) ; chr11:g.65718834_65718835insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65718837dup , CM000673.2:g.65718837dup	GRCh38
NC_000011.9:g.65486308dup , CM000673.1:g.65486308dup	GRCh37
NC_000011.8:g.65242884dup	NCBI36
NG_008976.2:g.7104dup , LRG_280:g.7104dup
NG_033057.1:g.11836dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000308418.10:c.*948dup (RNASEH2C) MANE Select	ENSP00000308193.5:n.*948dup
ENST00000341318.9:c.1425-36dup (KAT5) MANE Select	ENSP00000340330.4:n.1425-36dup
ENST00000528220.2:n.1672dup (RNASEH2C)
ENST00000531596.6:c.*424dup (RNASEH2C)	ENSP00000435717.2:n.*424dup
ENST00000534482.6:c.*948dup (RNASEH2C)	ENSP00000432081.2:n.*948dup
ENST00000642430.1:n.812dup (RNASEH2C)
ENST00000643214.1:n.1517dup (RNASEH2C)
ENST00000644142.1:c.*103-13dup (RNASEH2C)	ENSP00000493695.1:n.*103-13dup
ENST00000644198.1:n.494+846dup (RNASEH2C)
ENST00000646597.1:n.534+846dup (RNASEH2C)
ENST00000308418.8:c.*948dup (RNASEH2C)	ENSP00000308193.4:n.*948dup
ENST00000341318.8:c.1425-36dup (KAT5)	ENSP00000340330.4:n.1425-36dup
ENST00000352980.8:c.1170-36dup (KAT5)	ENSP00000344955.4:n.1170-36dup
ENST00000377046.7:c.1326-36dup (KAT5)	ENSP00000366245.3:n.1326-36dup
ENST00000525600.1:n.407-36dup (KAT5)
ENST00000530446.5:c.1269-36dup (KAT5)	ENSP00000434765.1:n.1269-36dup
ENST00000531596.5:c.900dup (RNASEH2C)
ENST00000533596.1:c.71-36dup (KAT5)
ENST00000533698.5:c.477-66dup (RNASEH2C)
ENST00000534482.5:c.491+846dup (RNASEH2C)
ENST00000534650.5:c.693-36dup (KAT5)	ENSP00000431819.1:n.693-36dup
NM_001206833.1:c.1269-36dup (KAT5)	NP_001193762.1:n.1269-36dup
NM_006388.3:c.1326-36dup (KAT5)	NP_006379.2:n.1326-36dup
NM_032193.3:c.*948dup , LRG_280t1:c.*948dup (RNASEH2C)	NP_115569.2:n.*948dup
NM_182709.2:c.1170-36dup (KAT5)	NP_874368.1:n.1170-36dup
NM_182710.2:c.1425-36dup (KAT5)	NP_874369.1:n.1425-36dup
XM_006718421.1:c.1353-36dup (KAT5)	XP_006718484.1:n.1353-36dup
XM_006718421.3:c.1353-36dup (KAT5)	XP_006718484.1:n.1353-36dup
XR_001747726.2:n.1607-36dup (KAT5)
XR_001747727.2:n.1572-36dup (KAT5)
XR_001747728.1:n.1288-36dup (KAT5)
XR_002957116.1:n.3167-36dup (KAT5)
NM_182710.3:c.1425-36dup (KAT5) MANE Select	NP_874369.1:n.1425-36dup
NM_001206833.2:c.1269-36dup (KAT5)	NP_001193762.1:n.1269-36dup
NM_006388.4:c.1326-36dup (KAT5)	NP_006379.2:n.1326-36dup
NM_032193.4:c.*948dup (RNASEH2C) MANE Select	NP_115569.2:n.*948dup
NM_182709.3:c.1170-36dup (KAT5)	NP_874368.1:n.1170-36dup