Canonical Allele Identifier: CA2685383384

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321861-TGACTGAAGCCAGAGCTGGGAGGGGCCCTCAGGAGCCAGGGTGGCACCAACTCTAGAGGGAGCTCTGGGAGTGGAAGTGGATCAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321865_143321950del , CM000669.2:g.143321865_143321950del	GRCh38
NC_000007.13:g.143018958_143019043del , CM000669.1:g.143018958_143019043del	GRCh37
NC_000007.12:g.142729080_142729165del	NCBI36
NG_009815.1:g.10740_10825del
NG_009815.2:g.10740_10825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+17_696+102del	ENSP00000498052.2:n.696+17_696+102del
ENST00000343257.7:c.696+17_696+102del MANE Select	ENSP00000339867.2:n.696+17_696+102del
ENST00000432192.6:c.464+17_464+102del
ENST00000455478.6:c.150+17_150+102del	ENSP00000400027.2:n.150+17_150+102del
ENST00000650516.1:c.696+17_696+102del	ENSP00000498052.1:n.696+17_696+102del
ENST00000343257.6:c.696+17_696+102del	ENSP00000339867.2:n.696+17_696+102del
ENST00000432192.5:c.154+17_154+102del
ENST00000455478.5:c.154+17_154+102del
ENST00000495612.1:n.154+17_154+102del
NM_000083.2:c.696+17_696+102del	NP_000074.2:n.696+17_696+102del
NR_046453.1:n.783+17_783+102del
XM_011515781.1:c.696+17_696+102del	XP_011514083.1:n.696+17_696+102del
XM_017011739.1:c.403+17_403+102del	XP_016867228.1:n.403+17_403+102del
XM_017011740.1:c.403+17_403+102del	XP_016867229.1:n.403+17_403+102del
NM_000083.3:c.696+17_696+102del MANE Select	NP_000074.3:n.696+17_696+102del
NR_046453.2:n.798+17_798+102del