Canonical Allele Identifier: CA168212772

Gene: CLCN1

Linked Data

• dbSNP Id: rs771387965
• MyVariant Identifiers: chr7:g.143028125_143028126del (hg19) ; chr7:g.143331032_143331033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331033_143331034del , CM000669.2:g.143331033_143331034del	GRCh38
NC_000007.13:g.143028126_143028127del , CM000669.1:g.143028126_143028127del	GRCh37
NC_000007.12:g.142738248_142738249del	NCBI36
NG_009815.1:g.19908_19909del
NG_009815.2:g.19908_19909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+136_979+137del	ENSP00000498052.2:n.979+136_979+137del
ENST00000343257.7:c.979+136_979+137del MANE Select	ENSP00000339867.2:n.979+136_979+137del
ENST00000432192.6:c.803+136_803+137del
ENST00000343257.6:c.979+136_979+137del	ENSP00000339867.2:n.979+136_979+137del
NM_000083.2:c.979+136_979+137del	NP_000074.2:n.979+136_979+137del
NR_046453.1:n.1069+136_1069+137del
XM_011515781.1:c.979+136_979+137del	XP_011514083.1:n.979+136_979+137del
XM_017011739.1:c.529+136_529+137del	XP_016867228.1:n.529+136_529+137del
XM_017011740.1:c.529+136_529+137del	XP_016867229.1:n.529+136_529+137del
NM_000083.3:c.979+136_979+137del MANE Select	NP_000074.3:n.979+136_979+137del
NR_046453.2:n.1084+136_1084+137del