Canonical Allele Identifier: CA1748898362

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351848_143351850delinsGTT , CM000669.2:g.143351848_143351850delinsGTT	GRCh38
NC_000007.13:g.143048941_143048943delinsGTT , CM000669.1:g.143048941_143048943delinsGTT	GRCh37
NC_000007.12:g.142759063_142759065delinsGTT	NCBI36
NG_009815.1:g.40723_40725delinsGTT
NG_009815.2:g.40723_40725delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2850_2852delinsGTT	ENSP00000498052.2:p.Glu950=
ENST00000343257.7:c.2850_2852delinsGTT MANE Select	ENSP00000339867.2:p.Glu950=
ENST00000343257.6:c.2850_2852delinsGTT	ENSP00000339867.2:p.Glu950=
NM_000083.2:c.2850_2852delinsGTT	NP_000074.2:p.Glu950=
NR_046453.1:n.2790_2792delinsGTT
XM_011515781.1:c.2874_2876delinsGTT	XP_011514083.1:p.Glu958=
XM_011515782.1:c.1596_1598delinsGTT	XP_011514084.1:p.Glu532=
XM_011515782.2:c.1596_1598delinsGTT	XP_011514084.1:p.Glu532=
XM_017011739.1:c.2424_2426delinsGTT	XP_016867228.1:p.Glu808=
XM_017011740.1:c.2400_2402delinsGTT	XP_016867229.1:p.Glu800=
NM_000083.3:c.2850_2852delinsGTT MANE Select	NP_000074.3:p.Glu950=
NR_046453.2:n.2805_2807delinsGTT