Canonical Allele Identifier: CA1748892773

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339292_143339298delinsTGCGGAG , CM000669.2:g.143339292_143339298delinsTGCGGAG	GRCh38
NC_000007.13:g.143036385_143036391delinsTGCGGAG , CM000669.1:g.143036385_143036391delinsTGCGGAG	GRCh37
NC_000007.12:g.142746507_142746513delinsTGCGGAG	NCBI36
NG_009815.1:g.28167_28173delinsTGCGGAG
NG_009815.2:g.28167_28173delinsTGCGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1441_1447delinsTGCGGAG	ENSP00000498052.2:p.Cys481=
ENST00000343257.7:c.1441_1447delinsTGCGGAG MANE Select	ENSP00000339867.2:p.Cys481=
ENST00000432192.6:c.1265_1271delinsTGCGGAG
ENST00000343257.6:c.1441_1447delinsTGCGGAG	ENSP00000339867.2:p.Cys481=
NM_000083.2:c.1441_1447delinsTGCGGAG	NP_000074.2:p.Cys481=
NR_046453.1:n.1381_1387delinsTGCGGAG
XM_011515781.1:c.1465_1471delinsTGCGGAG	XP_011514083.1:p.Cys489=
XM_011515782.1:c.187_193delinsTGCGGAG	XP_011514084.1:p.Cys63=
XM_011515782.2:c.187_193delinsTGCGGAG	XP_011514084.1:p.Cys63=
XM_017011739.1:c.1015_1021delinsTGCGGAG	XP_016867228.1:p.Cys339=
XM_017011740.1:c.991_997delinsTGCGGAG	XP_016867229.1:p.Cys331=
NM_000083.3:c.1441_1447delinsTGCGGAG MANE Select	NP_000074.3:p.Cys481=
NR_046453.2:n.1396_1402delinsTGCGGAG