Canonical Allele Identifier: CA658797022

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342008_143342009dup , CM000669.2:g.143342008_143342009dup	GRCh38
NC_000007.13:g.143039101_143039102dup , CM000669.1:g.143039101_143039102dup	GRCh37
NC_000007.12:g.142749223_142749224dup	NCBI36
NG_009815.1:g.30883_30884dup
NG_009815.2:g.30883_30884dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1662_1663dup MANE Select	NP_000074.3:p.His555LeufsTer6
ENST00000343257.7:c.1662_1663dup MANE Select	ENSP00000339867.2:p.His555LeufsTer6
NM_000083.2:c.1662_1663dup	NP_000074.2:p.His555LeufsTer6
NR_046453.1:n.1602_1603dup
NR_046453.2:n.1617_1618dup
ENST00000343257.6:c.1662_1663dup	ENSP00000339867.2:p.His555LeufsTer6
ENST00000432192.6:c.1486_1487dup
ENST00000650516.2:c.1662_1663dup	ENSP00000498052.2:p.His555LeufsTer6
XM_011515781.1:c.1686_1687dup	XP_011514083.1:p.His563LeufsTer6
XM_011515782.1:c.408_409dup	XP_011514084.1:p.His137LeufsTer6
XM_011515782.2:c.408_409dup	XP_011514084.1:p.His137LeufsTer6
XM_017011739.1:c.1236_1237dup	XP_016867228.1:p.His413LeufsTer6
XM_017011740.1:c.1212_1213dup	XP_016867229.1:p.His405LeufsTer6