Canonical Allele Identifier: CA2685378211

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339126-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339127_143339128del , CM000669.2:g.143339127_143339128del	GRCh38
NC_000007.13:g.143036220_143036221del , CM000669.1:g.143036220_143036221del	GRCh37
NC_000007.12:g.142746342_142746343del	NCBI36
NG_009815.1:g.28002_28003del
NG_009815.2:g.28002_28003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-126_1402-125del	ENSP00000498052.2:n.1402-126_1402-125del
ENST00000343257.7:c.1402-126_1402-125del MANE Select	ENSP00000339867.2:n.1402-126_1402-125del
ENST00000432192.6:c.1226-126_1226-125del
ENST00000343257.6:c.1402-126_1402-125del	ENSP00000339867.2:n.1402-126_1402-125del
NM_000083.2:c.1402-126_1402-125del	NP_000074.2:n.1402-126_1402-125del
NR_046453.1:n.1342-126_1342-125del
XM_011515781.1:c.1426-126_1426-125del	XP_011514083.1:n.1426-126_1426-125del
XM_011515782.1:c.148-126_148-125del	XP_011514084.1:n.148-126_148-125del
XM_011515782.2:c.148-126_148-125del	XP_011514084.1:n.148-126_148-125del
XM_017011739.1:c.976-126_976-125del	XP_016867228.1:n.976-126_976-125del
XM_017011740.1:c.952-126_952-125del	XP_016867229.1:n.952-126_952-125del
NM_000083.3:c.1402-126_1402-125del MANE Select	NP_000074.3:n.1402-126_1402-125del
NR_046453.2:n.1357-126_1357-125del