Canonical Allele Identifier: CA2605200104

Gene: CLCN1

Linked Data

• gnomAD v3: 7-143321306-TGCC-T
• gnomAD v4: 7-143321306-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321308_143321310del , CM000669.2:g.143321308_143321310del	GRCh38
NC_000007.13:g.143018401_143018403del , CM000669.1:g.143018401_143018403del	GRCh37
NC_000007.12:g.142728523_142728525del	NCBI36
NG_009815.1:g.10183_10185del
NG_009815.2:g.10183_10185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-57_434-55del	ENSP00000498052.2:n.434-57_434-55del
ENST00000343257.7:c.434-57_434-55del MANE Select	ENSP00000339867.2:n.434-57_434-55del
ENST00000432192.6:c.202-57_202-55del
ENST00000650516.1:c.434-57_434-55del	ENSP00000498052.1:n.434-57_434-55del
ENST00000343257.6:c.434-57_434-55del	ENSP00000339867.2:n.434-57_434-55del
NM_000083.2:c.434-57_434-55del	NP_000074.2:n.434-57_434-55del
NR_046453.1:n.521-57_521-55del
XM_011515781.1:c.434-57_434-55del	XP_011514083.1:n.434-57_434-55del
XM_017011739.1:c.141-57_141-55del	XP_016867228.1:n.141-57_141-55del
XM_017011740.1:c.141-57_141-55del	XP_016867229.1:n.141-57_141-55del
NM_000083.3:c.434-57_434-55del MANE Select	NP_000074.3:n.434-57_434-55del
NR_046453.2:n.536-57_536-55del