Canonical Allele Identifier: CA1748898399

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351928_143351930delinsCCA , CM000669.2:g.143351928_143351930delinsCCA	GRCh38
NC_000007.13:g.143049021_143049023delinsCCA , CM000669.1:g.143049021_143049023delinsCCA	GRCh37
NC_000007.12:g.142759143_142759145delinsCCA	NCBI36
NG_009815.1:g.40803_40805delinsCCA
NG_009815.2:g.40803_40805delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2930_2932delinsCCA	ENSP00000498052.2:p.Ser977=
ENST00000343257.7:c.2930_2932delinsCCA MANE Select	ENSP00000339867.2:p.Ser977=
ENST00000343257.6:c.2930_2932delinsCCA	ENSP00000339867.2:p.Ser977=
NM_000083.2:c.2930_2932delinsCCA	NP_000074.2:p.Ser977=
NR_046453.1:n.2870_2872delinsCCA
XM_011515781.1:c.2954_2956delinsCCA	XP_011514083.1:p.Ser985=
XM_011515782.1:c.1676_1678delinsCCA	XP_011514084.1:p.Ser559=
XM_011515782.2:c.1676_1678delinsCCA	XP_011514084.1:p.Ser559=
XM_017011739.1:c.2504_2506delinsCCA	XP_016867228.1:p.Ser835=
XM_017011740.1:c.2480_2482delinsCCA	XP_016867229.1:p.Ser827=
NM_000083.3:c.2930_2932delinsCCA MANE Select	NP_000074.3:p.Ser977=
NR_046453.2:n.2885_2887delinsCCA