Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.11846004_11846005insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT , CM000663.2:g.11846004_11846005insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT	GRCh38
NC_000001.10:g.11906061_11906062insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT , CM000663.1:g.11906061_11906062insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT	GRCh37
NC_000001.9:g.11828648_11828649insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT	NCBI36
NG_012926.1:g.6786_6787insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC , LRG_751:g.6786_6787insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC

HGVS	Amino-acid Change
ENST00000400892.3:c.1961+238_1961+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (CLCN6)	ENSP00000496938.1:n.1961+238_1961+239insCTCTTTGCAGTACCGAAGA...
ENST00000446542.5:n.781+238_781+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (NPPA-AS1)
ENST00000376476.1:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	ENSP00000365659.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGT...
ENST00000376480.7:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA) MANE Select	ENSP00000365663.3:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGT...
ENST00000610706.1:c.5_6insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	ENSP00000483195.1:n.5_6insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTAC...
NM_006172.3:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC , LRG_751t1:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	NP_006163.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCA...
NR_037806.1:n.1479+238_1479+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (NPPA-AS1)
NM_006172.4:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA) MANE Select	NP_006163.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCA...

HGVS	Amino-acid Change
ENST00000400892.3:c.1961+238_1961+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (CLCN6)	ENSP00000496938.1:n.1961+238_1961+239insCTCTTTGCAGTACCGAAGA...
ENST00000446542.5:n.781+238_781+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (NPPA-AS1)
ENST00000376476.1:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	ENSP00000365659.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGT...
ENST00000376480.7:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA) MANE Select	ENSP00000365663.3:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGT...
ENST00000610706.1:c.5_6insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	ENSP00000483195.1:n.5_6insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTAC...
NM_006172.3:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC , LRG_751t1:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA)	NP_006163.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCA...
NR_037806.1:n.1479+238_1479+239insCTCTTTGCAGTACCGAAGATAACAGCCAGGGAGGACAAGCAGGGCTGTT (NPPA-AS1)
NM_006172.4:c.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCAAAGAGAACAGCC (NPPA) MANE Select	NP_006163.1:n.11_12insCTGCTTGTCCTCCCTGGCTGTTATCTTCGGTACTGCA...