Canonical Allele Identifier: CA3038324755
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11845843_11845844insACTGCAAAGAGAACACAGACA , CM000663.2:g.11845843_11845844insACTGCAAAGAGAACACAGACA GRCh38
NC_000001.10:g.11905900_11905901insACTGCAAAGAGAACACAGACA , CM000663.1:g.11905900_11905901insACTGCAAAGAGAACACAGACA GRCh37
NC_000001.9:g.11828487_11828488insACTGCAAAGAGAACACAGACA NCBI36
NG_012926.1:g.6940_6941insTGTCTGTGTTCTCTTTGCAGT , LRG_751:g.6940_6941insTGTCTGTGTTCTCTTTGCAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1961+77_*1961+78insACTGCAAAGAGAACACAGACA (CLCN6) ENSP00000496938.1:n.*1961+77_*1961+78insACTGCAAAGAGAACACAGACA...
ENST00000446542.5:n.781+77_781+78insACTGCAAAGAGAACACAGACA (NPPA-AS1)
ENST00000376480.7:c.*165_*166insTGTCTGTGTTCTCTTTGCAGT (NPPA) MANE Select ENSP00000365663.3:n.*165_*166insTGTCTGTGTTCTCTTTGCAGT
ENST00000610706.1:c.*159_*160insTGTCTGTGTTCTCTTTGCAGT (NPPA) ENSP00000483195.1:n.*159_*160insTGTCTGTGTTCTCTTTGCAGT
NM_006172.3:c.*165_*166insTGTCTGTGTTCTCTTTGCAGT , LRG_751t1:c.*165_*166insTGTCTGTGTTCTCTTTGCAGT (NPPA) NP_006163.1:n.*165_*166insTGTCTGTGTTCTCTTTGCAGT
NR_037806.1:n.1479+77_1479+78insACTGCAAAGAGAACACAGACA (NPPA-AS1)
NM_006172.4:c.*165_*166insTGTCTGTGTTCTCTTTGCAGT (NPPA) MANE Select NP_006163.1:n.*165_*166insTGTCTGTGTTCTCTTTGCAGT
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