LDH info

Canonical Allele Identifier: CA16041427
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371123
ClinVar RCV Id: RCV000411122
dbSNP Id: rs1057517025

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332016del , CM000673.2:g.108332016del GRCh38
NC_000011.9:g.108202743del , CM000673.1:g.108202743del GRCh37
NC_000011.8:g.107707953del NCBI36
NG_009830.1:g.114185del , LRG_135:g.114185del
NG_054724.1:g.142819del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.7767del , LRG_135t1:c.7767del (ATM) NP_000042.3:p.Lys2589AsnfsTer17
XM_005271414.3:c.*39-447del (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.805-447del (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.7767del (ATM) XP_005271618.2:p.Lys2589AsnfsTer17
XM_005271562.3:c.7767del (ATM) XP_005271619.2:p.Lys2589AsnfsTer17
XM_006718843.2:c.7767del (ATM) XP_006718906.1:p.Lys2589AsnfsTer17
XM_006718845.1:c.3723del (ATM) XP_006718908.1:p.Lys1241AsnfsTer17
XM_011542840.1:c.7767del (ATM) XP_011541142.1:p.Lys2589AsnfsTer17
XM_011542841.1:c.7767del (ATM) XP_011541143.1:p.Lys2589AsnfsTer17
XM_011542842.1:c.7602del (ATM) XP_011541144.1:p.Lys2534AsnfsTer17
XM_011542843.1:c.7767del (ATM) XP_011541145.1:p.Lys2589AsnfsTer17
XM_011542844.1:c.6723del (ATM) XP_011541146.1:p.Lys2241AsnfsTer17
XM_011542845.1:c.6459del (ATM) XP_011541147.1:p.Lys2153AsnfsTer17
XM_011542847.1:c.2838del (ATM) XP_011541149.1:p.Lys946AsnfsTer17
NM_001330368.1:c.641-22943del (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.*38+3206del (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.7767del (ATM) VV NP_001338763.1:p.Lys2589AsnfsTer17
NR_147053.2:n.2375-447del (C11orf65)
XM_005271414.4:c.*39-447del (C11orf65) XP_005271471.1:p.=
XM_005271415.4:c.805-447del (C11orf65) XP_005271472.1:p.=
XM_005271562.5:c.7767del (ATM) XP_005271619.2:p.Lys2589AsnfsTer17
XM_006718843.4:c.7767del (ATM) XP_006718906.1:p.Lys2589AsnfsTer17
XM_006718845.2:c.3723del (ATM) XP_006718908.1:p.Lys1241AsnfsTer17
XM_011542840.3:c.7767del (ATM) XP_011541142.1:p.Lys2589AsnfsTer17
XM_011542842.3:c.7602del (ATM) XP_011541144.1:p.Lys2534AsnfsTer17
XM_011542843.2:c.7767del (ATM) XP_011541145.1:p.Lys2589AsnfsTer17
XM_011542844.3:c.6723del (ATM) XP_011541146.1:p.Lys2241AsnfsTer17
XM_011542845.2:c.6459del (ATM) XP_011541147.1:p.Lys2153AsnfsTer17
XM_017017789.2:c.7767del (ATM) XP_016873278.1:p.Lys2589AsnfsTer17
XM_017017790.2:c.7767del (ATM) XP_016873279.1:p.Lys2589AsnfsTer17
NM_001330368.2:c.641-22943del (C11orf65) VV NP_001317297.1:p.=
NM_001351110.2:c.*38+3206del (C11orf65) VV NP_001338039.1:p.=
NM_001351834.2:c.7767del (ATM) VV NP_001338763.1:p.Lys2589AsnfsTer17
ENST00000278616.8:c.7767del ENSP00000278616.4:p.Lys2589AsnfsTer17
ENST00000452508.6:c.7767del ENSP00000388058.2:p.Lys2589AsnfsTer17
ENST00000524755.5:n.300-447del
ENST00000524792.5:n.3982del
ENST00000525729.5:c.641-22943del ENSP00000433395.1:p.=
ENST00000527531.5:c.*1270-447del ENSP00000431706.1:p.=
ENST00000533690.5:n.3171del
ENST00000615746.4:c.*1270-447del ENSP00000483537.1:p.=