Canonical Allele Identifier: CA2685380454

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342206-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342207del , CM000669.2:g.143342207del	GRCh38
NC_000007.13:g.143039300del , CM000669.1:g.143039300del	GRCh37
NC_000007.12:g.142749422del	NCBI36
NG_009815.1:g.31082del
NG_009815.2:g.31082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+65del	ENSP00000498052.2:n.1796+65del
ENST00000343257.7:c.1796+65del MANE Select	ENSP00000339867.2:n.1796+65del
ENST00000432192.6:c.1620+65del
ENST00000343257.6:c.1796+65del	ENSP00000339867.2:n.1796+65del
NM_000083.2:c.1796+65del	NP_000074.2:n.1796+65del
NR_046453.1:n.1736+65del
XM_011515781.1:c.1820+65del	XP_011514083.1:n.1820+65del
XM_011515782.1:c.542+65del	XP_011514084.1:n.542+65del
XM_011515782.2:c.542+65del	XP_011514084.1:n.542+65del
XM_017011739.1:c.1370+65del	XP_016867228.1:n.1370+65del
XM_017011740.1:c.1346+65del	XP_016867229.1:n.1346+65del
NM_000083.3:c.1796+65del MANE Select	NP_000074.3:n.1796+65del
NR_046453.2:n.1751+65del