Canonical Allele Identifier: CA1748894077

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342287_143342295delinsACTGAAAGT , CM000669.2:g.143342287_143342295delinsACTGAAAGT	GRCh38
NC_000007.13:g.143039380_143039388delinsACTGAAAGT , CM000669.1:g.143039380_143039388delinsACTGAAAGT	GRCh37
NC_000007.12:g.142749502_142749510delinsACTGAAAGT	NCBI36
NG_009815.1:g.31162_31170delinsACTGAAAGT
NG_009815.2:g.31162_31170delinsACTGAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-85_1797-77delinsACTGAAAGT	ENSP00000498052.2:n.1797-85_1797-77delinsACTGAAAGT
ENST00000343257.7:c.1797-85_1797-77delinsACTGAAAGT MANE Select	ENSP00000339867.2:n.1797-85_1797-77delinsACTGAAAGT
ENST00000432192.6:c.1621-85_1621-77delinsACTGAAAGT
ENST00000343257.6:c.1797-85_1797-77delinsACTGAAAGT	ENSP00000339867.2:n.1797-85_1797-77delinsACTGAAAGT
NM_000083.2:c.1797-85_1797-77delinsACTGAAAGT	NP_000074.2:n.1797-85_1797-77delinsACTGAAAGT
NR_046453.1:n.1737-85_1737-77delinsACTGAAAGT
XM_011515781.1:c.1821-85_1821-77delinsACTGAAAGT	XP_011514083.1:n.1821-85_1821-77delinsACTGAAAGT
XM_011515782.1:c.543-85_543-77delinsACTGAAAGT	XP_011514084.1:n.543-85_543-77delinsACTGAAAGT
XM_011515782.2:c.543-85_543-77delinsACTGAAAGT	XP_011514084.1:n.543-85_543-77delinsACTGAAAGT
XM_017011739.1:c.1371-85_1371-77delinsACTGAAAGT	XP_016867228.1:n.1371-85_1371-77delinsACTGAAAGT
XM_017011740.1:c.1347-85_1347-77delinsACTGAAAGT	XP_016867229.1:n.1347-85_1347-77delinsACTGAAAGT
NM_000083.3:c.1797-85_1797-77delinsACTGAAAGT MANE Select	NP_000074.3:n.1797-85_1797-77delinsACTGAAAGT
NR_046453.2:n.1752-85_1752-77delinsACTGAAAGT