Canonical Allele Identifier: CA2685378166

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143324510-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324514_143324515del , CM000669.2:g.143324514_143324515del	GRCh38
NC_000007.13:g.143021607_143021608del , CM000669.1:g.143021607_143021608del	GRCh37
NC_000007.12:g.142731729_142731730del	NCBI36
NG_009815.1:g.13389_13390del
NG_009815.2:g.13389_13390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+617_853+618del	ENSP00000498052.2:n.853+617_853+618del
ENST00000343257.7:c.853+22_853+23del MANE Select	ENSP00000339867.2:n.853+22_853+23del
ENST00000432192.6:c.677+22_677+23del
ENST00000455478.6:c.441+22_441+23del	ENSP00000400027.2:n.441+22_441+23del
ENST00000650516.1:c.853+617_853+618del	ENSP00000498052.1:n.853+617_853+618del
ENST00000343257.6:c.853+22_853+23del	ENSP00000339867.2:n.853+22_853+23del
ENST00000432192.5:c.367+22_367+23del
ENST00000455478.5:c.445+22_445+23del
ENST00000495612.1:n.154+2666_154+2667del
NM_000083.2:c.853+22_853+23del	NP_000074.2:n.853+22_853+23del
NR_046453.1:n.943+22_943+23del
XM_011515781.1:c.853+617_853+618del	XP_011514083.1:n.853+617_853+618del
XM_017011739.1:c.403+2666_403+2667del	XP_016867228.1:n.403+2666_403+2667del
XM_017011740.1:c.403+2666_403+2667del	XP_016867229.1:n.403+2666_403+2667del
NM_000083.3:c.853+22_853+23del MANE Select	NP_000074.3:n.853+22_853+23del
NR_046453.2:n.958+22_958+23del