Canonical Allele Identifier: CA1108121899

Gene: CLCN1

Linked Data

• gnomAD v3: 7-143321339-C-CATTAAAAAA
• gnomAD v4: 7-143321339-C-CATTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321339_143321340insATTAAAAAA , CM000669.2:g.143321339_143321340insATTAAAAAA	GRCh38
NC_000007.13:g.143018432_143018433insATTAAAAAA , CM000669.1:g.143018432_143018433insATTAAAAAA	GRCh37
NC_000007.12:g.142728554_142728555insATTAAAAAA	NCBI36
NG_009815.1:g.10214_10215insATTAAAAAA
NG_009815.2:g.10214_10215insATTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-26_434-25insATTAAAAAA	ENSP00000498052.2:n.434-26_434-25insATTAAAAAA
ENST00000343257.7:c.434-26_434-25insATTAAAAAA MANE Select	ENSP00000339867.2:n.434-26_434-25insATTAAAAAA
ENST00000432192.6:c.202-26_202-25insATTAAAAAA
ENST00000650516.1:c.434-26_434-25insATTAAAAAA	ENSP00000498052.1:n.434-26_434-25insATTAAAAAA
ENST00000343257.6:c.434-26_434-25insATTAAAAAA	ENSP00000339867.2:n.434-26_434-25insATTAAAAAA
NM_000083.2:c.434-26_434-25insATTAAAAAA	NP_000074.2:n.434-26_434-25insATTAAAAAA
NR_046453.1:n.521-26_521-25insATTAAAAAA
XM_011515781.1:c.434-26_434-25insATTAAAAAA	XP_011514083.1:n.434-26_434-25insATTAAAAAA
XM_017011739.1:c.141-26_141-25insATTAAAAAA	XP_016867228.1:n.141-26_141-25insATTAAAAAA
XM_017011740.1:c.141-26_141-25insATTAAAAAA	XP_016867229.1:n.141-26_141-25insATTAAAAAA
NM_000083.3:c.434-26_434-25insATTAAAAAA MANE Select	NP_000074.3:n.434-26_434-25insATTAAAAAA
NR_046453.2:n.536-26_536-25insATTAAAAAA