Canonical Allele Identifier: CA2643311468
Gene: CLCN6 HGNC NCBI
NPPA-AS1 HGNC NCBI
NPPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847016_11847017del , CM000663.2:g.11847016_11847017del GRCh38
NC_000001.10:g.11907073_11907074del , CM000663.1:g.11907073_11907074del GRCh37
NC_000001.9:g.11829660_11829661del NCBI36
NG_012926.1:g.5767_5768del , LRG_751:g.5767_5768del

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-561_*1962-560del (CLCN6) ENSP00000496938.1:n.*1962-561_*1962-560del
ENST00000446542.5:n.782-418_782-417del (NPPA-AS1)
ENST00000376476.1:c.300+96_300+97del (NPPA) ENSP00000365659.1:n.300+96_300+97del
ENST00000376480.7:c.450+96_450+97del (NPPA) MANE Select ENSP00000365663.3:n.450+96_450+97del
ENST00000610706.1:c.450+96_450+97del (NPPA) ENSP00000483195.1:n.450+96_450+97del
NM_006172.3:c.450+96_450+97del , LRG_751t1:c.450+96_450+97del (NPPA) NP_006163.1:n.450+96_450+97del
NR_037806.1:n.1480-418_1480-417del (NPPA-AS1)
NM_006172.4:c.450+96_450+97del (NPPA) MANE Select NP_006163.1:n.450+96_450+97del
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