Canonical Allele Identifier: CA1748898175

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351457_143351458delinsTC , CM000669.2:g.143351457_143351458delinsTC	GRCh38
NC_000007.13:g.143048550_143048551delinsTC , CM000669.1:g.143048550_143048551delinsTC	GRCh37
NC_000007.12:g.142758672_142758673delinsTC	NCBI36
NG_009815.1:g.40332_40333delinsTC
NG_009815.2:g.40332_40333delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-137_2596-136delinsTC	ENSP00000498052.2:n.2596-137_2596-136delinsTC
ENST00000343257.7:c.2596-137_2596-136delinsTC MANE Select	ENSP00000339867.2:n.2596-137_2596-136delinsTC
ENST00000432192.6:c.2420-137_2420-136delinsTC
ENST00000343257.6:c.2596-137_2596-136delinsTC	ENSP00000339867.2:n.2596-137_2596-136delinsTC
NM_000083.2:c.2596-137_2596-136delinsTC	NP_000074.2:n.2596-137_2596-136delinsTC
NR_046453.1:n.2536-137_2536-136delinsTC
XM_011515781.1:c.2620-137_2620-136delinsTC	XP_011514083.1:n.2620-137_2620-136delinsTC
XM_011515782.1:c.1342-137_1342-136delinsTC	XP_011514084.1:n.1342-137_1342-136delinsTC
XM_011515782.2:c.1342-137_1342-136delinsTC	XP_011514084.1:n.1342-137_1342-136delinsTC
XM_017011739.1:c.2170-137_2170-136delinsTC	XP_016867228.1:n.2170-137_2170-136delinsTC
XM_017011740.1:c.2146-137_2146-136delinsTC	XP_016867229.1:n.2146-137_2146-136delinsTC
NM_000083.3:c.2596-137_2596-136delinsTC MANE Select	NP_000074.3:n.2596-137_2596-136delinsTC
NR_046453.2:n.2551-137_2551-136delinsTC