Canonical Allele Identifier: CA1748898393

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351913_143351914delinsGC , CM000669.2:g.143351913_143351914delinsGC	GRCh38
NC_000007.13:g.143049006_143049007delinsGC , CM000669.1:g.143049006_143049007delinsGC	GRCh37
NC_000007.12:g.142759128_142759129delinsGC	NCBI36
NG_009815.1:g.40788_40789delinsGC
NG_009815.2:g.40788_40789delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2915_2916delinsGC	ENSP00000498052.2:p.Gly972=
ENST00000343257.7:c.2915_2916delinsGC MANE Select	ENSP00000339867.2:p.Gly972=
ENST00000343257.6:c.2915_2916delinsGC	ENSP00000339867.2:p.Gly972=
NM_000083.2:c.2915_2916delinsGC	NP_000074.2:p.Gly972=
NR_046453.1:n.2855_2856delinsGC
XM_011515781.1:c.2939_2940delinsGC	XP_011514083.1:p.Gly980=
XM_011515782.1:c.1661_1662delinsGC	XP_011514084.1:p.Gly554=
XM_011515782.2:c.1661_1662delinsGC	XP_011514084.1:p.Gly554=
XM_017011739.1:c.2489_2490delinsGC	XP_016867228.1:p.Gly830=
XM_017011740.1:c.2465_2466delinsGC	XP_016867229.1:p.Gly822=
NM_000083.3:c.2915_2916delinsGC MANE Select	NP_000074.3:p.Gly972=
NR_046453.2:n.2870_2871delinsGC