Canonical Allele Identifier: CA2685380516

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342244-AATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342253_143342255del , CM000669.2:g.143342253_143342255del	GRCh38
NC_000007.13:g.143039346_143039348del , CM000669.1:g.143039346_143039348del	GRCh37
NC_000007.12:g.142749468_142749470del	NCBI36
NG_009815.1:g.31128_31130del
NG_009815.2:g.31128_31130del

Transcript Alleles

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