Canonical Allele Identifier: CA2685378188

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339120-C-CCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339120_143339121insCAA , CM000669.2:g.143339120_143339121insCAA	GRCh38
NC_000007.13:g.143036213_143036214insCAA , CM000669.1:g.143036213_143036214insCAA	GRCh37
NC_000007.12:g.142746335_142746336insCAA	NCBI36
NG_009815.1:g.27995_27996insCAA
NG_009815.2:g.27995_27996insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-133_1402-132insCAA	ENSP00000498052.2:n.1402-133_1402-132insCAA
ENST00000343257.7:c.1402-133_1402-132insCAA MANE Select	ENSP00000339867.2:n.1402-133_1402-132insCAA
ENST00000432192.6:c.1226-133_1226-132insCAA
ENST00000343257.6:c.1402-133_1402-132insCAA	ENSP00000339867.2:n.1402-133_1402-132insCAA
NM_000083.2:c.1402-133_1402-132insCAA	NP_000074.2:n.1402-133_1402-132insCAA
NR_046453.1:n.1342-133_1342-132insCAA
XM_011515781.1:c.1426-133_1426-132insCAA	XP_011514083.1:n.1426-133_1426-132insCAA
XM_011515782.1:c.148-133_148-132insCAA	XP_011514084.1:n.148-133_148-132insCAA
XM_011515782.2:c.148-133_148-132insCAA	XP_011514084.1:n.148-133_148-132insCAA
XM_017011739.1:c.976-133_976-132insCAA	XP_016867228.1:n.976-133_976-132insCAA
XM_017011740.1:c.952-133_952-132insCAA	XP_016867229.1:n.952-133_952-132insCAA
NM_000083.3:c.1402-133_1402-132insCAA MANE Select	NP_000074.3:n.1402-133_1402-132insCAA
NR_046453.2:n.1357-133_1357-132insCAA