Canonical Allele Identifier: CA2991005657

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11847362_11847379dup , CM000663.2:g.11847362_11847379dup GRCh38
NC_000001.10:g.11907419_11907436dup , CM000663.1:g.11907419_11907436dup GRCh37
NC_000001.9:g.11830006_11830023dup NCBI36
NG_012926.1:g.5406_5423dup , LRG_751:g.5406_5423dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000400892.3:c.*1962-215_*1962-198dup (CLCN6) ENSP00000496938.1:n.*1962-215_*1962-198dup
ENST00000446542.5:n.782-72_782-55dup (NPPA-AS1)
ENST00000376476.1:c.35_52dup (NPPA) ENSP00000365659.1:p.Asn17_Glu18insValLeuSerGluProAsn
ENST00000376480.7:c.185_202dup (NPPA) MANE Select ENSP00000365663.3:p.Asn67_Glu68insValLeuSerGluProAsn
ENST00000610706.1:c.185_202dup (NPPA) ENSP00000483195.1:p.Asn67_Glu68insValLeuSerGluProAsn
NM_006172.3:c.185_202dup , LRG_751t1:c.185_202dup (NPPA) NP_006163.1:p.Asn67_Glu68insValLeuSerGluProAsn
NR_037806.1:n.1480-72_1480-55dup (NPPA-AS1)
NM_006172.4:c.185_202dup (NPPA) MANE Select NP_006163.1:p.Asn67_Glu68insValLeuSerGluProAsn