Canonical Allele Identifier: CA2685383196

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321734-GAAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321737_143321741del , CM000669.2:g.143321737_143321741del	GRCh38
NC_000007.13:g.143018830_143018834del , CM000669.1:g.143018830_143018834del	GRCh37
NC_000007.12:g.142728952_142728956del	NCBI36
NG_009815.1:g.10612_10616del
NG_009815.2:g.10612_10616del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.585_589del	ENSP00000498052.2:p.Lys195AsnfsTer?
ENST00000343257.7:c.585_589del MANE Select	ENSP00000339867.2:p.Lys195AsnfsTer?
ENST00000432192.6:c.353_357del
ENST00000455478.6:c.39_43del	ENSP00000400027.2:p.Lys13AsnfsTer?
ENST00000650516.1:c.585_589del	ENSP00000498052.1:p.Lys195AsnfsTer?
ENST00000343257.6:c.585_589del	ENSP00000339867.2:p.Lys195AsnfsTer?
ENST00000432192.5:c.43_47del
ENST00000455478.5:c.43_47del
ENST00000495612.1:n.43_47del
NM_000083.2:c.585_589del	NP_000074.2:p.Lys195AsnfsTer?
NR_046453.1:n.672_676del
XM_011515781.1:c.585_589del	XP_011514083.1:p.Lys195AsnfsTer?
XM_017011739.1:c.292_296del	XP_016867228.1:p.Asp98TyrfsTer7
XM_017011740.1:c.292_296del	XP_016867229.1:p.Asp98TyrfsTer7
NM_000083.3:c.585_589del MANE Select	NP_000074.3:p.Lys195AsnfsTer?
NR_046453.2:n.687_691del