Canonical Allele Identifier: CA1748889765

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332749_143332753delinsCTTTG , CM000669.2:g.143332749_143332753delinsCTTTG	GRCh38
NC_000007.13:g.143029842_143029846delinsCTTTG , CM000669.1:g.143029842_143029846delinsCTTTG	GRCh37
NC_000007.12:g.142739964_142739968delinsCTTTG	NCBI36
NG_009815.1:g.21624_21628delinsCTTTG
NG_009815.2:g.21624_21628delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1277_1281delinsCTTTG	ENSP00000498052.2:p.Thr426=
ENST00000343257.7:c.1277_1281delinsCTTTG MANE Select	ENSP00000339867.2:p.Thr426=
ENST00000432192.6:c.1101_1105delinsCTTTG
ENST00000343257.6:c.1277_1281delinsCTTTG	ENSP00000339867.2:p.Thr426=
NM_000083.2:c.1277_1281delinsCTTTG	NP_000074.2:p.Thr426=
NR_046453.1:n.1341+246_1341+250delinsCTTTG
XM_011515781.1:c.1301_1305delinsCTTTG	XP_011514083.1:p.Thr434=
XM_011515782.1:c.23_27delinsCTTTG	XP_011514084.1:p.Thr8=
XM_011515782.2:c.23_27delinsCTTTG	XP_011514084.1:p.Thr8=
XM_017011739.1:c.851_855delinsCTTTG	XP_016867228.1:p.Thr284=
XM_017011740.1:c.827_831delinsCTTTG	XP_016867229.1:p.Thr276=
NM_000083.3:c.1277_1281delinsCTTTG MANE Select	NP_000074.3:p.Thr426=
NR_046453.2:n.1356+246_1356+250delinsCTTTG