Canonical Allele Identifier: CA2579051080

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351685_143351687del , CM000669.2:g.143351685_143351687del	GRCh38
NC_000007.13:g.143048778_143048780del , CM000669.1:g.143048778_143048780del	GRCh37
NC_000007.12:g.142758900_142758902del	NCBI36
NG_009815.1:g.40560_40562del
NG_009815.2:g.40560_40562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2687_2689del	ENSP00000498052.2:p.Ser896del
ENST00000343257.7:c.2687_2689del MANE Select	ENSP00000339867.2:p.Ser896del
ENST00000432192.6:c.2511_2513del
ENST00000343257.6:c.2687_2689del	ENSP00000339867.2:p.Ser896del
NM_000083.2:c.2687_2689del	NP_000074.2:p.Ser896del
NR_046453.1:n.2627_2629del
XM_011515781.1:c.2711_2713del	XP_011514083.1:p.Ser904del
XM_011515782.1:c.1433_1435del	XP_011514084.1:p.Ser478del
XM_011515782.2:c.1433_1435del	XP_011514084.1:p.Ser478del
XM_017011739.1:c.2261_2263del	XP_016867228.1:p.Ser754del
XM_017011740.1:c.2237_2239del	XP_016867229.1:p.Ser746del
NM_000083.3:c.2687_2689del MANE Select	NP_000074.3:p.Ser896del
NR_046453.2:n.2642_2644del