Canonical Allele Identifier: CA4536990

Gene: CLCN1

Linked Data

• dbSNP Id: rs778411246
• ExAC: 7:143018762 T / TTTCACC
• gnomAD v2: 7-143018762-T-TTTCACC
• gnomAD v4: 7-143321669-T-TTTCACC
• MyVariant Identifiers: chr7:g.143018762_143018763insTTCACC (hg19) ; chr7:g.143321669_143321670insTTCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321678_143321683dup , CM000669.2:g.143321678_143321683dup	GRCh38
NC_000007.13:g.143018771_143018776dup , CM000669.1:g.143018771_143018776dup	GRCh37
NC_000007.12:g.142728893_142728898dup	NCBI36
NG_009815.1:g.10553_10558dup
NG_009815.2:g.10553_10558dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.563-37_563-32dup	ENSP00000498052.2:n.563-37_563-32dup
ENST00000343257.7:c.563-37_563-32dup MANE Select	ENSP00000339867.2:n.563-37_563-32dup
ENST00000432192.6:c.331-37_331-32dup
ENST00000455478.6:c.17-37_17-32dup	ENSP00000400027.2:n.17-37_17-32dup
ENST00000650516.1:c.563-37_563-32dup	ENSP00000498052.1:n.563-37_563-32dup
ENST00000343257.6:c.563-37_563-32dup	ENSP00000339867.2:n.563-37_563-32dup
ENST00000432192.5:c.21-37_21-32dup
ENST00000455478.5:c.21-37_21-32dup
ENST00000495612.1:n.21-37_21-32dup
NM_000083.2:c.563-37_563-32dup	NP_000074.2:n.563-37_563-32dup
NR_046453.1:n.650-37_650-32dup
XM_011515781.1:c.563-37_563-32dup	XP_011514083.1:n.563-37_563-32dup
XM_017011739.1:c.270-37_270-32dup	XP_016867228.1:n.270-37_270-32dup
XM_017011740.1:c.270-37_270-32dup	XP_016867229.1:n.270-37_270-32dup
NM_000083.3:c.563-37_563-32dup MANE Select	NP_000074.3:n.563-37_563-32dup
NR_046453.2:n.665-37_665-32dup