Canonical Allele Identifier: CA2685381025

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332356-G-GTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332357_143332360dup , CM000669.2:g.143332357_143332360dup	GRCh38
NC_000007.13:g.143029450_143029453dup , CM000669.1:g.143029450_143029453dup	GRCh37
NC_000007.12:g.142739572_142739575dup	NCBI36
NG_009815.1:g.21232_21235dup
NG_009815.2:g.21232_21235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-62_1167-59dup	ENSP00000498052.2:n.1167-62_1167-59dup
ENST00000343257.7:c.1167-62_1167-59dup MANE Select	ENSP00000339867.2:n.1167-62_1167-59dup
ENST00000432192.6:c.991-62_991-59dup
ENST00000343257.6:c.1167-62_1167-59dup	ENSP00000339867.2:n.1167-62_1167-59dup
NM_000083.2:c.1167-62_1167-59dup	NP_000074.2:n.1167-62_1167-59dup
NR_046453.1:n.1257-62_1257-59dup
XM_011515781.1:c.1167-62_1167-59dup	XP_011514083.1:n.1167-62_1167-59dup
XM_011515782.1:c.-3-367_-3-364dup	XP_011514084.1:n.-3-367_-3-364dup
XM_011515782.2:c.-3-367_-3-364dup	XP_011514084.1:n.-3-367_-3-364dup
XM_017011739.1:c.717-62_717-59dup	XP_016867228.1:n.717-62_717-59dup
XM_017011740.1:c.717-62_717-59dup	XP_016867229.1:n.717-62_717-59dup
NM_000083.3:c.1167-62_1167-59dup MANE Select	NP_000074.3:n.1167-62_1167-59dup
NR_046453.2:n.1272-62_1272-59dup