Canonical Allele Identifier: CA1748889716

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802758703
• gnomAD v4: 7-143332663-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332669del , CM000669.2:g.143332669del	GRCh38
NC_000007.13:g.143029762del , CM000669.1:g.143029762del	GRCh37
NC_000007.12:g.142739884del	NCBI36
NG_009815.1:g.21544del
NG_009815.2:g.21544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1252-55del	ENSP00000498052.2:n.1252-55del
ENST00000343257.7:c.1252-55del MANE Select	ENSP00000339867.2:n.1252-55del
ENST00000432192.6:c.1076-55del
ENST00000343257.6:c.1252-55del	ENSP00000339867.2:n.1252-55del
NM_000083.2:c.1252-55del	NP_000074.2:n.1252-55del
NR_046453.1:n.1341+166del
XM_011515781.1:c.1276-55del	XP_011514083.1:n.1276-55del
XM_011515782.1:c.-3-55del	XP_011514084.1:n.-3-55del
XM_011515782.2:c.-3-55del	XP_011514084.1:n.-3-55del
XM_017011739.1:c.826-55del	XP_016867228.1:n.826-55del
XM_017011740.1:c.802-55del	XP_016867229.1:n.802-55del
NM_000083.3:c.1252-55del MANE Select	NP_000074.3:n.1252-55del
NR_046453.2:n.1356+166del