Canonical Allele Identifier: CA1748892768

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339286_143339300delinsATACCCTGCGGAGGC , CM000669.2:g.143339286_143339300delinsATACCCTGCGGAGGC	GRCh38
NC_000007.13:g.143036379_143036393delinsATACCCTGCGGAGGC , CM000669.1:g.143036379_143036393delinsATACCCTGCGGAGGC	GRCh37
NC_000007.12:g.142746501_142746515delinsATACCCTGCGGAGGC	NCBI36
NG_009815.1:g.28161_28175delinsATACCCTGCGGAGGC
NG_009815.2:g.28161_28175delinsATACCCTGCGGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1435_1449delinsATACCCTGCGGAGGC	ENSP00000498052.2:p.Ile479=
ENST00000343257.7:c.1435_1449delinsATACCCTGCGGAGGC MANE Select	ENSP00000339867.2:p.Ile479=
ENST00000432192.6:c.1259_1273delinsATACCCTGCGGAGGC
ENST00000343257.6:c.1435_1449delinsATACCCTGCGGAGGC	ENSP00000339867.2:p.Ile479=
NM_000083.2:c.1435_1449delinsATACCCTGCGGAGGC	NP_000074.2:p.Ile479=
NR_046453.1:n.1375_1389delinsATACCCTGCGGAGGC
XM_011515781.1:c.1459_1473delinsATACCCTGCGGAGGC	XP_011514083.1:p.Ile487=
XM_011515782.1:c.181_195delinsATACCCTGCGGAGGC	XP_011514084.1:p.Ile61=
XM_011515782.2:c.181_195delinsATACCCTGCGGAGGC	XP_011514084.1:p.Ile61=
XM_017011739.1:c.1009_1023delinsATACCCTGCGGAGGC	XP_016867228.1:p.Ile337=
XM_017011740.1:c.985_999delinsATACCCTGCGGAGGC	XP_016867229.1:p.Ile329=
NM_000083.3:c.1435_1449delinsATACCCTGCGGAGGC MANE Select	NP_000074.3:p.Ile479=
NR_046453.2:n.1390_1404delinsATACCCTGCGGAGGC