Canonical Allele Identifier: CA2685377886

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143324301-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324304_143324305del , CM000669.2:g.143324304_143324305del	GRCh38
NC_000007.13:g.143021397_143021398del , CM000669.1:g.143021397_143021398del	GRCh37
NC_000007.12:g.142731519_142731520del	NCBI36
NG_009815.1:g.13179_13180del
NG_009815.2:g.13179_13180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+407_853+408del	ENSP00000498052.2:n.853+407_853+408del
ENST00000343257.7:c.775-110_775-109del MANE Select	ENSP00000339867.2:n.775-110_775-109del
ENST00000432192.6:c.599-110_599-109del
ENST00000455478.6:c.363-110_363-109del	ENSP00000400027.2:n.363-110_363-109del
ENST00000650516.1:c.853+407_853+408del	ENSP00000498052.1:n.853+407_853+408del
ENST00000343257.6:c.775-110_775-109del	ENSP00000339867.2:n.775-110_775-109del
ENST00000432192.5:c.289-110_289-109del
ENST00000455478.5:c.367-110_367-109del
ENST00000495612.1:n.154+2456_154+2457del
NM_000083.2:c.775-110_775-109del	NP_000074.2:n.775-110_775-109del
NR_046453.1:n.862-107_862-106del
XM_011515781.1:c.853+407_853+408del	XP_011514083.1:n.853+407_853+408del
XM_017011739.1:c.403+2456_403+2457del	XP_016867228.1:n.403+2456_403+2457del
XM_017011740.1:c.403+2456_403+2457del	XP_016867229.1:n.403+2456_403+2457del
NM_000083.3:c.775-110_775-109del MANE Select	NP_000074.3:n.775-110_775-109del
NR_046453.2:n.877-107_877-106del