LDH info

Canonical Allele Identifier: CA16041657
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370860
ClinVar RCV Id: RCV000409711
dbSNP Id: rs1057516820

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23358470_23358471insC , CM000675.2:g.23358470_23358471insC GRCh38
NC_000013.10:g.23932609_23932610insC , CM000675.1:g.23932609_23932610insC GRCh37
NC_000013.9:g.22830609_22830610insC NCBI36
NG_012342.1:g.80232_80233insG

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.27_28insG VV NP_001264984.1:p.Tyr10ValfsTer27
NM_014363.5:c.468_469insG VV NP_055178.3:p.Tyr157ValfsTer27
XM_005266338.1:c.468_469insG XP_005266395.1:p.Tyr157ValfsTer27
XM_011535038.1:c.492_493insG XP_011533340.1:p.Tyr165ValfsTer27
XM_011535039.1:c.459_460insG XP_011533341.1:p.Tyr154ValfsTer27
XM_005266338.2:c.468_469insG XP_005266395.1:p.Tyr157ValfsTer27
XM_011535039.2:c.459_460insG XP_011533341.1:p.Tyr154ValfsTer27
XM_017020539.1:c.459_460insG XP_016876028.1:p.Tyr154ValfsTer27
XM_024449337.1:c.468_469insG XP_024305105.1:p.Tyr157ValfsTer27
NM_014363.6:c.468_469insG VV MANE Preferred NP_055178.3:p.Tyr157ValfsTer27
NM_001278055.2:c.27_28insG VV NP_001264984.1:p.Tyr10ValfsTer27
ENST00000382292.7:c.468_469insG ENSP00000371729.3:p.Tyr157ValfsTer27
ENST00000382298.7:c.468_469insG ENSP00000371735.3:p.Tyr157ValfsTer27
ENST00000402364.1:c.-1783_-1782insG ENSP00000385844.1:p.=
ENST00000455470.5:n.166_167insG