Canonical Allele Identifier: CA998632548

Gene: CLCN6 NPPA-AS1 NPPA

Linked Data

• gnomAD v3: 1-11846936-A-ATTTTT
• gnomAD v4: 1-11846936-A-ATTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11846940_11846941insTTTTT , CM000663.2:g.11846940_11846941insTTTTT	GRCh38
NC_000001.10:g.11906997_11906998insTTTTT , CM000663.1:g.11906997_11906998insTTTTT	GRCh37
NC_000001.9:g.11829584_11829585insTTTTT	NCBI36
NG_012926.1:g.5847_5848insAAAAA , LRG_751:g.5847_5848insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-637_*1962-636insTTTTT (CLCN6)	ENSP00000496938.1:n.*1962-637_*1962-636insTTTTT
ENST00000446542.5:n.782-494_782-493insTTTTT (NPPA-AS1)
ENST00000376476.1:c.300+176_300+177insAAAAA (NPPA)	ENSP00000365659.1:n.300+176_300+177insAAAAA
ENST00000376480.7:c.450+176_450+177insAAAAA (NPPA) MANE Select	ENSP00000365663.3:n.450+176_450+177insAAAAA
ENST00000610706.1:c.450+176_450+177insAAAAA (NPPA)	ENSP00000483195.1:n.450+176_450+177insAAAAA
NM_006172.3:c.450+176_450+177insAAAAA , LRG_751t1:c.450+176_450+177insAAAAA (NPPA)	NP_006163.1:n.450+176_450+177insAAAAA
NR_037806.1:n.1480-494_1480-493insTTTTT (NPPA-AS1)
NM_006172.4:c.450+176_450+177insAAAAA (NPPA) MANE Select	NP_006163.1:n.450+176_450+177insAAAAA