Canonical Allele Identifier: CA1748898207

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803400819
• gnomAD v4: 7-143351511-GTTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351516_143351520del , CM000669.2:g.143351516_143351520del	GRCh38
NC_000007.13:g.143048609_143048613del , CM000669.1:g.143048609_143048613del	GRCh37
NC_000007.12:g.142758731_142758735del	NCBI36
NG_009815.1:g.40391_40395del
NG_009815.2:g.40391_40395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-78_2596-74del	ENSP00000498052.2:n.2596-78_2596-74del
ENST00000343257.7:c.2596-78_2596-74del MANE Select	ENSP00000339867.2:n.2596-78_2596-74del
ENST00000432192.6:c.2420-78_2420-74del
ENST00000343257.6:c.2596-78_2596-74del	ENSP00000339867.2:n.2596-78_2596-74del
NM_000083.2:c.2596-78_2596-74del	NP_000074.2:n.2596-78_2596-74del
NR_046453.1:n.2536-78_2536-74del
XM_011515781.1:c.2620-78_2620-74del	XP_011514083.1:n.2620-78_2620-74del
XM_011515782.1:c.1342-78_1342-74del	XP_011514084.1:n.1342-78_1342-74del
XM_011515782.2:c.1342-78_1342-74del	XP_011514084.1:n.1342-78_1342-74del
XM_017011739.1:c.2170-78_2170-74del	XP_016867228.1:n.2170-78_2170-74del
XM_017011740.1:c.2146-78_2146-74del	XP_016867229.1:n.2146-78_2146-74del
NM_000083.3:c.2596-78_2596-74del MANE Select	NP_000074.3:n.2596-78_2596-74del
NR_046453.2:n.2551-78_2551-74del