Canonical Allele Identifier: CA1748893920

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341957_143341959delinsCCA , CM000669.2:g.143341957_143341959delinsCCA	GRCh38
NC_000007.13:g.143039050_143039052delinsCCA , CM000669.1:g.143039050_143039052delinsCCA	GRCh37
NC_000007.12:g.142749172_142749174delinsCCA	NCBI36
NG_009815.1:g.30832_30834delinsCCA
NG_009815.2:g.30832_30834delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1611_1613delinsCCA	ENSP00000498052.2:p.Ser537=
ENST00000343257.7:c.1611_1613delinsCCA MANE Select	ENSP00000339867.2:p.Ser537=
ENST00000432192.6:c.1435_1437delinsCCA
ENST00000343257.6:c.1611_1613delinsCCA	ENSP00000339867.2:p.Ser537=
NM_000083.2:c.1611_1613delinsCCA	NP_000074.2:p.Ser537=
NR_046453.1:n.1551_1553delinsCCA
XM_011515781.1:c.1635_1637delinsCCA	XP_011514083.1:p.Ser545=
XM_011515782.1:c.357_359delinsCCA	XP_011514084.1:p.Ser119=
XM_011515782.2:c.357_359delinsCCA	XP_011514084.1:p.Ser119=
XM_017011739.1:c.1185_1187delinsCCA	XP_016867228.1:p.Ser395=
XM_017011740.1:c.1161_1163delinsCCA	XP_016867229.1:p.Ser387=
NM_000083.3:c.1611_1613delinsCCA MANE Select	NP_000074.3:p.Ser537=
NR_046453.2:n.1566_1568delinsCCA