Canonical Allele Identifier: CA2778230472

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332295_143332296insTTTTTTT , CM000669.2:g.143332295_143332296insTTTTTTT	GRCh38
NC_000007.13:g.143029388_143029389insTTTTTTT , CM000669.1:g.143029388_143029389insTTTTTTT	GRCh37
NC_000007.12:g.142739510_142739511insTTTTTTT	NCBI36
NG_009815.1:g.21170_21171insTTTTTTT
NG_009815.2:g.21170_21171insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-124_1167-123insTTTTTTT	ENSP00000498052.2:n.1167-124_1167-123insTTTTTTT
ENST00000343257.7:c.1167-124_1167-123insTTTTTTT MANE Select	ENSP00000339867.2:n.1167-124_1167-123insTTTTTTT
ENST00000432192.6:c.991-124_991-123insTTTTTTT
ENST00000343257.6:c.1167-124_1167-123insTTTTTTT	ENSP00000339867.2:n.1167-124_1167-123insTTTTTTT
NM_000083.2:c.1167-124_1167-123insTTTTTTT	NP_000074.2:n.1167-124_1167-123insTTTTTTT
NR_046453.1:n.1257-124_1257-123insTTTTTTT
XM_011515781.1:c.1167-124_1167-123insTTTTTTT	XP_011514083.1:n.1167-124_1167-123insTTTTTTT
XM_011515782.1:c.-3-429_-3-428insTTTTTTT	XP_011514084.1:n.-3-429_-3-428insTTTTTTT
XM_011515782.2:c.-3-429_-3-428insTTTTTTT	XP_011514084.1:n.-3-429_-3-428insTTTTTTT
XM_017011739.1:c.717-124_717-123insTTTTTTT	XP_016867228.1:n.717-124_717-123insTTTTTTT
XM_017011740.1:c.717-124_717-123insTTTTTTT	XP_016867229.1:n.717-124_717-123insTTTTTTT
NM_000083.3:c.1167-124_1167-123insTTTTTTT MANE Select	NP_000074.3:n.1167-124_1167-123insTTTTTTT
NR_046453.2:n.1272-124_1272-123insTTTTTTT