LDH info

Canonical Allele Identifier: CA123828
Gene: MAPT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 98243

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46010374_46010376del , CM000679.2:g.46010374_46010376del GRCh38
NC_000017.10:g.44087740_44087742del , CM000679.1:g.44087740_44087742del GRCh37
NC_000017.9:g.41443577_41443579del NCBI36
NG_007398.1:g.120954_120956del

Transcript Alleles

HGVS Amino-acid change
NM_001123066.3:c.1892_1894del VV NP_001116538.2:p.Asn631del
NM_001123067.3:c.800_802del VV NP_001116539.1:p.Asn267del
NM_001203251.1:c.736-3869_736-3867del VV NP_001190180.1:p.=
NM_001203252.1:c.823-3869_823-3867del VV NP_001190181.1:p.=
NM_005910.5:c.887_889del VV NP_005901.2:p.Asn296del
NM_016834.4:c.713_715del VV NP_058518.1:p.Asn238del
NM_016835.4:c.1838_1840del VV NP_058519.3:p.Asn613del
NM_016841.4:c.649-3869_649-3867del VV NP_058525.1:p.=
XM_005257362.3:c.2150_2152del XP_005257419.1:p.Asn717del
XM_005257364.3:c.2063_2065del XP_005257421.1:p.Asn688del
XM_005257365.3:c.2086-3869_2086-3867del XP_005257422.1:p.=
XM_005257366.2:c.1976_1978del XP_005257423.1:p.Asn659del
XM_005257367.3:c.1952_1954del XP_005257424.1:p.Asn651del
XM_005257368.3:c.1888-3869_1888-3867del XP_005257425.1:p.=
XM_005257369.3:c.1085_1087del XP_005257426.1:p.Asn362del
XM_005257370.3:c.998_1000del XP_005257427.1:p.Asn333del
XM_005257371.3:c.911_913del XP_005257428.1:p.Asn304del
XM_005257362.4:c.2150_2152del XP_005257419.1:p.Asn717del
XM_005257364.4:c.2063_2065del XP_005257421.1:p.Asn688del
XM_005257365.4:c.2086-3869_2086-3867del XP_005257422.1:p.=
XM_005257366.3:c.1976_1978del XP_005257423.1:p.Asn659del
XM_005257367.4:c.1952_1954del XP_005257424.1:p.Asn651del
XM_005257368.4:c.1888-3869_1888-3867del XP_005257425.1:p.=
XM_005257369.4:c.1085_1087del XP_005257426.1:p.Asn362del
XM_005257370.4:c.998_1000del XP_005257427.1:p.Asn333del
XM_005257371.4:c.911_913del XP_005257428.1:p.Asn304del
ENST00000262410.9:c.1838_1840del ENSP00000262410.5:p.Asn613del
ENST00000334239.12:c.649-3869_649-3867del ENSP00000334886.8:p.=
ENST00000340799.9:c.800_802del ENSP00000340438.5:p.Asn267del
ENST00000344290.9:c.1892_1894del ENSP00000340820.5:p.Asn631del
ENST00000351559.9:c.887_889del ENSP00000303214.7:p.Asn296del
ENST00000415613.6:n.1892_1894del ENSP00000410838.2:p.Asn631del
ENST00000420682.6:n.800_802del ENSP00000413056.2:p.Asn267del
ENST00000431008.7:n.823-3869_823-3867del ENSP00000389250.3:p.=
ENST00000446361.7:c.713_715del ENSP00000408975.3:p.Asn238del
ENST00000535772.5:c.823-3869_823-3867del ENSP00000443028.1:p.=
ENST00000570299.5:n.777-8244_777-8242del
ENST00000571987.5:n.1838_1840del ENSP00000458742.1:p.Asn613del
ENST00000574436.5:n.887_889del ENSP00000460965.1:p.Asn296del
ENST00000576518.1:n.6108-3869_6108-3867del