Canonical Allele Identifier: CA4537120

Gene: CLCN1

Linked Data

• dbSNP Id: rs746098354
• ExAC: 7:143021481 TTCTC / T
• gnomAD v2: 7-143021481-TTCTC-T
• gnomAD v3: 7-143324388-TTCTC-T
• gnomAD v4: 7-143324388-TTCTC-T
• MyVariant Identifiers: chr7:g.143021482_143021485del (hg19) ; chr7:g.143324389_143324392del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324390_143324393del , CM000669.2:g.143324390_143324393del	GRCh38
NC_000007.13:g.143021483_143021486del , CM000669.1:g.143021483_143021486del	GRCh37
NC_000007.12:g.142731605_142731608del	NCBI36
NG_009815.1:g.13265_13268del
NG_009815.2:g.13265_13268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+493_853+496del	ENSP00000498052.2:n.853+493_853+496del
ENST00000343257.7:c.775-24_775-21del MANE Select	ENSP00000339867.2:n.775-24_775-21del
ENST00000432192.6:c.599-24_599-21del
ENST00000455478.6:c.363-24_363-21del	ENSP00000400027.2:n.363-24_363-21del
ENST00000650516.1:c.853+493_853+496del	ENSP00000498052.1:n.853+493_853+496del
ENST00000343257.6:c.775-24_775-21del	ENSP00000339867.2:n.775-24_775-21del
ENST00000432192.5:c.289-24_289-21del
ENST00000455478.5:c.367-24_367-21del
ENST00000495612.1:n.154+2542_154+2545del
NM_000083.2:c.775-24_775-21del	NP_000074.2:n.775-24_775-21del
NR_046453.1:n.862-21_862-18del
XM_011515781.1:c.853+493_853+496del	XP_011514083.1:n.853+493_853+496del
XM_017011739.1:c.403+2542_403+2545del	XP_016867228.1:n.403+2542_403+2545del
XM_017011740.1:c.403+2542_403+2545del	XP_016867229.1:n.403+2542_403+2545del
NM_000083.3:c.775-24_775-21del MANE Select	NP_000074.3:n.775-24_775-21del
NR_046453.2:n.877-21_877-18del