Canonical Allele Identifier: CA2685377904

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143324318-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324319_143324320del , CM000669.2:g.143324319_143324320del	GRCh38
NC_000007.13:g.143021412_143021413del , CM000669.1:g.143021412_143021413del	GRCh37
NC_000007.12:g.142731534_142731535del	NCBI36
NG_009815.1:g.13194_13195del
NG_009815.2:g.13194_13195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+422_853+423del	ENSP00000498052.2:n.853+422_853+423del
ENST00000343257.7:c.775-95_775-94del MANE Select	ENSP00000339867.2:n.775-95_775-94del
ENST00000432192.6:c.599-95_599-94del
ENST00000455478.6:c.363-95_363-94del	ENSP00000400027.2:n.363-95_363-94del
ENST00000650516.1:c.853+422_853+423del	ENSP00000498052.1:n.853+422_853+423del
ENST00000343257.6:c.775-95_775-94del	ENSP00000339867.2:n.775-95_775-94del
ENST00000432192.5:c.289-95_289-94del
ENST00000455478.5:c.367-95_367-94del
ENST00000495612.1:n.154+2471_154+2472del
NM_000083.2:c.775-95_775-94del	NP_000074.2:n.775-95_775-94del
NR_046453.1:n.862-92_862-91del
XM_011515781.1:c.853+422_853+423del	XP_011514083.1:n.853+422_853+423del
XM_017011739.1:c.403+2471_403+2472del	XP_016867228.1:n.403+2471_403+2472del
XM_017011740.1:c.403+2471_403+2472del	XP_016867229.1:n.403+2471_403+2472del
NM_000083.3:c.775-95_775-94del MANE Select	NP_000074.3:n.775-95_775-94del
NR_046453.2:n.877-92_877-91del