Canonical Allele Identifier: CA2685378173

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339117-TGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339122_143339125del , CM000669.2:g.143339122_143339125del	GRCh38
NC_000007.13:g.143036215_143036218del , CM000669.1:g.143036215_143036218del	GRCh37
NC_000007.12:g.142746337_142746340del	NCBI36
NG_009815.1:g.27997_28000del
NG_009815.2:g.27997_28000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-131_1402-128del	ENSP00000498052.2:n.1402-131_1402-128del
ENST00000343257.7:c.1402-131_1402-128del MANE Select	ENSP00000339867.2:n.1402-131_1402-128del
ENST00000432192.6:c.1226-131_1226-128del
ENST00000343257.6:c.1402-131_1402-128del	ENSP00000339867.2:n.1402-131_1402-128del
NM_000083.2:c.1402-131_1402-128del	NP_000074.2:n.1402-131_1402-128del
NR_046453.1:n.1342-131_1342-128del
XM_011515781.1:c.1426-131_1426-128del	XP_011514083.1:n.1426-131_1426-128del
XM_011515782.1:c.148-131_148-128del	XP_011514084.1:n.148-131_148-128del
XM_011515782.2:c.148-131_148-128del	XP_011514084.1:n.148-131_148-128del
XM_017011739.1:c.976-131_976-128del	XP_016867228.1:n.976-131_976-128del
XM_017011740.1:c.952-131_952-128del	XP_016867229.1:n.952-131_952-128del
NM_000083.3:c.1402-131_1402-128del MANE Select	NP_000074.3:n.1402-131_1402-128del
NR_046453.2:n.1357-131_1357-128del