Canonical Allele Identifier: CA2685380514

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342244-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342253_143342255dup , CM000669.2:g.143342253_143342255dup	GRCh38
NC_000007.13:g.143039346_143039348dup , CM000669.1:g.143039346_143039348dup	GRCh37
NC_000007.12:g.142749468_142749470dup	NCBI36
NG_009815.1:g.31128_31130dup
NG_009815.2:g.31128_31130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+111_1796+113dup	ENSP00000498052.2:n.1796+111_1796+113dup
ENST00000343257.7:c.1796+111_1796+113dup MANE Select	ENSP00000339867.2:n.1796+111_1796+113dup
ENST00000432192.6:c.1620+111_1620+113dup
ENST00000343257.6:c.1796+111_1796+113dup	ENSP00000339867.2:n.1796+111_1796+113dup
NM_000083.2:c.1796+111_1796+113dup	NP_000074.2:n.1796+111_1796+113dup
NR_046453.1:n.1736+111_1736+113dup
XM_011515781.1:c.1820+111_1820+113dup	XP_011514083.1:n.1820+111_1820+113dup
XM_011515782.1:c.542+111_542+113dup	XP_011514084.1:n.542+111_542+113dup
XM_011515782.2:c.542+111_542+113dup	XP_011514084.1:n.542+111_542+113dup
XM_017011739.1:c.1370+111_1370+113dup	XP_016867228.1:n.1370+111_1370+113dup
XM_017011740.1:c.1346+111_1346+113dup	XP_016867229.1:n.1346+111_1346+113dup
NM_000083.3:c.1796+111_1796+113dup MANE Select	NP_000074.3:n.1796+111_1796+113dup
NR_046453.2:n.1751+111_1751+113dup