Canonical Allele Identifier: CA2685381771

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332669-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332671del , CM000669.2:g.143332671del	GRCh38
NC_000007.13:g.143029764del , CM000669.1:g.143029764del	GRCh37
NC_000007.12:g.142739886del	NCBI36
NG_009815.1:g.21546del
NG_009815.2:g.21546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-53del	ENSP00000498052.2:n.1252-53del
ENST00000343257.7:c.1252-53del MANE Select	ENSP00000339867.2:n.1252-53del
ENST00000432192.6:c.1076-53del
ENST00000343257.6:c.1252-53del	ENSP00000339867.2:n.1252-53del
NM_000083.2:c.1252-53del	NP_000074.2:n.1252-53del
NR_046453.1:n.1341+168del
XM_011515781.1:c.1276-53del	XP_011514083.1:n.1276-53del
XM_011515782.1:c.-3-53del	XP_011514084.1:n.-3-53del
XM_011515782.2:c.-3-53del	XP_011514084.1:n.-3-53del
XM_017011739.1:c.826-53del	XP_016867228.1:n.826-53del
XM_017011740.1:c.802-53del	XP_016867229.1:n.802-53del
NM_000083.3:c.1252-53del MANE Select	NP_000074.3:n.1252-53del
NR_046453.2:n.1356+168del