Canonical Allele Identifier: CA1748892729

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339197_143339198delinsGT , CM000669.2:g.143339197_143339198delinsGT	GRCh38
NC_000007.13:g.143036290_143036291delinsGT , CM000669.1:g.143036290_143036291delinsGT	GRCh37
NC_000007.12:g.142746412_142746413delinsGT	NCBI36
NG_009815.1:g.28072_28073delinsGT
NG_009815.2:g.28072_28073delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-56_1402-55delinsGT	ENSP00000498052.2:n.1402-56_1402-55delinsGT
ENST00000343257.7:c.1402-56_1402-55delinsGT MANE Select	ENSP00000339867.2:n.1402-56_1402-55delinsGT
ENST00000432192.6:c.1226-56_1226-55delinsGT
ENST00000343257.6:c.1402-56_1402-55delinsGT	ENSP00000339867.2:n.1402-56_1402-55delinsGT
NM_000083.2:c.1402-56_1402-55delinsGT	NP_000074.2:n.1402-56_1402-55delinsGT
NR_046453.1:n.1342-56_1342-55delinsGT
XM_011515781.1:c.1426-56_1426-55delinsGT	XP_011514083.1:n.1426-56_1426-55delinsGT
XM_011515782.1:c.148-56_148-55delinsGT	XP_011514084.1:n.148-56_148-55delinsGT
XM_011515782.2:c.148-56_148-55delinsGT	XP_011514084.1:n.148-56_148-55delinsGT
XM_017011739.1:c.976-56_976-55delinsGT	XP_016867228.1:n.976-56_976-55delinsGT
XM_017011740.1:c.952-56_952-55delinsGT	XP_016867229.1:n.952-56_952-55delinsGT
NM_000083.3:c.1402-56_1402-55delinsGT MANE Select	NP_000074.3:n.1402-56_1402-55delinsGT
NR_046453.2:n.1357-56_1357-55delinsGT