Canonical Allele Identifier: CA1748893900

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803086827

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341911_143341912del , CM000669.2:g.143341911_143341912del	GRCh38
NC_000007.13:g.143039004_143039005del , CM000669.1:g.143039004_143039005del	GRCh37
NC_000007.12:g.142749126_142749127del	NCBI36
NG_009815.1:g.30786_30787del
NG_009815.2:g.30786_30787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-18_1583-17del	ENSP00000498052.2:n.1583-18_1583-17del
ENST00000343257.7:c.1583-18_1583-17del MANE Select	ENSP00000339867.2:n.1583-18_1583-17del
ENST00000432192.6:c.1407-18_1407-17del
ENST00000343257.6:c.1583-18_1583-17del	ENSP00000339867.2:n.1583-18_1583-17del
NM_000083.2:c.1583-18_1583-17del	NP_000074.2:n.1583-18_1583-17del
NR_046453.1:n.1523-18_1523-17del
XM_011515781.1:c.1607-18_1607-17del	XP_011514083.1:n.1607-18_1607-17del
XM_011515782.1:c.329-18_329-17del	XP_011514084.1:n.329-18_329-17del
XM_011515782.2:c.329-18_329-17del	XP_011514084.1:n.329-18_329-17del
XM_017011739.1:c.1157-18_1157-17del	XP_016867228.1:n.1157-18_1157-17del
XM_017011740.1:c.1133-18_1133-17del	XP_016867229.1:n.1133-18_1133-17del
NM_000083.3:c.1583-18_1583-17del MANE Select	NP_000074.3:n.1583-18_1583-17del
NR_046453.2:n.1538-18_1538-17del