Canonical Allele Identifier: CA1748889556

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332276_143332278delinsTGG , CM000669.2:g.143332276_143332278delinsTGG	GRCh38
NC_000007.13:g.143029369_143029371delinsTGG , CM000669.1:g.143029369_143029371delinsTGG	GRCh37
NC_000007.12:g.142739491_142739493delinsTGG	NCBI36
NG_009815.1:g.21151_21153delinsTGG
NG_009815.2:g.21151_21153delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-143_1167-141delinsTGG	ENSP00000498052.2:n.1167-143_1167-141delinsTGG
ENST00000343257.7:c.1167-143_1167-141delinsTGG MANE Select	ENSP00000339867.2:n.1167-143_1167-141delinsTGG
ENST00000432192.6:c.991-143_991-141delinsTGG
ENST00000343257.6:c.1167-143_1167-141delinsTGG	ENSP00000339867.2:n.1167-143_1167-141delinsTGG
NM_000083.2:c.1167-143_1167-141delinsTGG	NP_000074.2:n.1167-143_1167-141delinsTGG
NR_046453.1:n.1257-143_1257-141delinsTGG
XM_011515781.1:c.1167-143_1167-141delinsTGG	XP_011514083.1:n.1167-143_1167-141delinsTGG
XM_011515782.1:c.-3-448_-3-446delinsTGG	XP_011514084.1:n.-3-448_-3-446delinsTGG
XM_011515782.2:c.-3-448_-3-446delinsTGG	XP_011514084.1:n.-3-448_-3-446delinsTGG
XM_017011739.1:c.717-143_717-141delinsTGG	XP_016867228.1:n.717-143_717-141delinsTGG
XM_017011740.1:c.717-143_717-141delinsTGG	XP_016867229.1:n.717-143_717-141delinsTGG
NM_000083.3:c.1167-143_1167-141delinsTGG MANE Select	NP_000074.3:n.1167-143_1167-141delinsTGG
NR_046453.2:n.1272-143_1272-141delinsTGG