Canonical Allele Identifier: CA2742482493

Gene: CLCN6 NPPA-AS1 NPPA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11847545_11847546insACTTTCCT , CM000663.2:g.11847545_11847546insACTTTCCT	GRCh38
NC_000001.10:g.11907602_11907603insACTTTCCT , CM000663.1:g.11907602_11907603insACTTTCCT	GRCh37
NC_000001.9:g.11830189_11830190insACTTTCCT	NCBI36
NG_012926.1:g.5238_5239insAGGAAAGT , LRG_751:g.5238_5239insAGGAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400892.3:c.*1962-32_*1962-31insACTTTCCT (CLCN6)	ENSP00000496938.1:n.*1962-32_*1962-31insACTTTCCT
ENST00000446542.5:n.893_894insACTTTCCT (NPPA-AS1)
ENST00000376476.1:c.-27-107_-27-106insAGGAAAGT (NPPA)	ENSP00000365659.1:n.-27-107_-27-106insAGGAAAGT
ENST00000376480.7:c.123+16_123+17insAGGAAAGT (NPPA) MANE Select	ENSP00000365663.3:n.123+16_123+17insAGGAAAGT
ENST00000610706.1:c.123+16_123+17insAGGAAAGT (NPPA)	ENSP00000483195.1:n.123+16_123+17insAGGAAAGT
NM_006172.3:c.123+16_123+17insAGGAAAGT , LRG_751t1:c.123+16_123+17insAGGAAAGT (NPPA)	NP_006163.1:n.123+16_123+17insAGGAAAGT
NR_037806.1:n.1591_1592insACTTTCCT (NPPA-AS1)
NM_006172.4:c.123+16_123+17insAGGAAAGT (NPPA) MANE Select	NP_006163.1:n.123+16_123+17insAGGAAAGT