Canonical Allele Identifier: CA2685383066

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321594-T-TGCCCAATCCTCCCCACCACTGCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321598_143321599insAATCCTCCCCACCACTGCCTCGCCC , CM000669.2:g.143321598_143321599insAATCCTCCCCACCACTGCCTCGCCC	GRCh38
NC_000007.13:g.143018691_143018692insAATCCTCCCCACCACTGCCTCGCCC , CM000669.1:g.143018691_143018692insAATCCTCCCCACCACTGCCTCGCCC	GRCh37
NC_000007.12:g.142728813_142728814insAATCCTCCCCACCACTGCCTCGCCC	NCBI36
NG_009815.1:g.10473_10474insAATCCTCCCCACCACTGCCTCGCCC
NG_009815.2:g.10473_10474insAATCCTCCCCACCACTGCCTCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC	ENSP00000498052.2:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGC...
ENST00000343257.7:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC MANE Select	ENSP00000339867.2:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGC...
ENST00000432192.6:c.330+105_330+106insAATCCTCCCCACCACTGCCTCGCCC
ENST00000455478.6:c.16+105_16+106insAATCCTCCCCACCACTGCCTCGCCC	ENSP00000400027.2:n.16+105_16+106insAATCCTCCCCACCACTGCCTCGCCC...
ENST00000650516.1:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC	ENSP00000498052.1:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGC...
ENST00000343257.6:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC	ENSP00000339867.2:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGC...
ENST00000432192.5:c.20+105_20+106insAATCCTCCCCACCACTGCCTCGCCC
ENST00000455478.5:c.20+105_20+106insAATCCTCCCCACCACTGCCTCGCCC
ENST00000495612.1:n.20+105_20+106insAATCCTCCCCACCACTGCCTCGCCC
NM_000083.2:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC	NP_000074.2:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC
NR_046453.1:n.649+105_649+106insAATCCTCCCCACCACTGCCTCGCCC
XM_011515781.1:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC	XP_011514083.1:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC
XM_017011739.1:c.269+105_269+106insAATCCTCCCCACCACTGCCTCGCCC	XP_016867228.1:n.269+105_269+106insAATCCTCCCCACCACTGCCTCGCCC
XM_017011740.1:c.269+105_269+106insAATCCTCCCCACCACTGCCTCGCCC	XP_016867229.1:n.269+105_269+106insAATCCTCCCCACCACTGCCTCGCCC
NM_000083.3:c.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC MANE Select	NP_000074.3:n.562+105_562+106insAATCCTCCCCACCACTGCCTCGCCC
NR_046453.2:n.664+105_664+106insAATCCTCCCCACCACTGCCTCGCCC