Canonical Allele Identifier: CA2685381679

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332617-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332620del , CM000669.2:g.143332620del	GRCh38
NC_000007.13:g.143029713del , CM000669.1:g.143029713del	GRCh37
NC_000007.12:g.142739835del	NCBI36
NG_009815.1:g.21495del
NG_009815.2:g.21495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-104del	ENSP00000498052.2:n.1252-104del
ENST00000343257.7:c.1252-104del MANE Select	ENSP00000339867.2:n.1252-104del
ENST00000432192.6:c.1076-104del
ENST00000343257.6:c.1252-104del	ENSP00000339867.2:n.1252-104del
NM_000083.2:c.1252-104del	NP_000074.2:n.1252-104del
NR_046453.1:n.1341+117del
XM_011515781.1:c.1275+93del	XP_011514083.1:n.1275+93del
XM_011515782.1:c.-3-104del	XP_011514084.1:n.-3-104del
XM_011515782.2:c.-3-104del	XP_011514084.1:n.-3-104del
XM_017011739.1:c.825+93del	XP_016867228.1:n.825+93del
XM_017011740.1:c.802-104del	XP_016867229.1:n.802-104del
NM_000083.3:c.1252-104del MANE Select	NP_000074.3:n.1252-104del
NR_046453.2:n.1356+117del