Canonical Allele Identifier: CA1748889555

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332276_143332277delinsTG , CM000669.2:g.143332276_143332277delinsTG	GRCh38
NC_000007.13:g.143029369_143029370delinsTG , CM000669.1:g.143029369_143029370delinsTG	GRCh37
NC_000007.12:g.142739491_142739492delinsTG	NCBI36
NG_009815.1:g.21151_21152delinsTG
NG_009815.2:g.21151_21152delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-143_1167-142delinsTG	ENSP00000498052.2:n.1167-143_1167-142delinsTG
ENST00000343257.7:c.1167-143_1167-142delinsTG MANE Select	ENSP00000339867.2:n.1167-143_1167-142delinsTG
ENST00000432192.6:c.991-143_991-142delinsTG
ENST00000343257.6:c.1167-143_1167-142delinsTG	ENSP00000339867.2:n.1167-143_1167-142delinsTG
NM_000083.2:c.1167-143_1167-142delinsTG	NP_000074.2:n.1167-143_1167-142delinsTG
NR_046453.1:n.1257-143_1257-142delinsTG
XM_011515781.1:c.1167-143_1167-142delinsTG	XP_011514083.1:n.1167-143_1167-142delinsTG
XM_011515782.1:c.-3-448_-3-447delinsTG	XP_011514084.1:n.-3-448_-3-447delinsTG
XM_011515782.2:c.-3-448_-3-447delinsTG	XP_011514084.1:n.-3-448_-3-447delinsTG
XM_017011739.1:c.717-143_717-142delinsTG	XP_016867228.1:n.717-143_717-142delinsTG
XM_017011740.1:c.717-143_717-142delinsTG	XP_016867229.1:n.717-143_717-142delinsTG
NM_000083.3:c.1167-143_1167-142delinsTG MANE Select	NP_000074.3:n.1167-143_1167-142delinsTG
NR_046453.2:n.1272-143_1272-142delinsTG