Canonical Allele Identifier: CA578626953

Gene: CLCN1

Linked Data

• gnomAD v2: 7-143048646-TCCAA-T
• gnomAD v3: 7-143351553-TCCAA-T
• gnomAD v4: 7-143351553-TCCAA-T
• MyVariant Identifiers: chr7:g.143048647_143048650del (hg19) ; chr7:g.143351554_143351557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351555_143351558del , CM000669.2:g.143351555_143351558del	GRCh38
NC_000007.13:g.143048648_143048651del , CM000669.1:g.143048648_143048651del	GRCh37
NC_000007.12:g.142758770_142758773del	NCBI36
NG_009815.1:g.40430_40433del
NG_009815.2:g.40430_40433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-39_2596-36del	ENSP00000498052.2:n.2596-39_2596-36del
ENST00000343257.7:c.2596-39_2596-36del MANE Select	ENSP00000339867.2:n.2596-39_2596-36del
ENST00000432192.6:c.2420-39_2420-36del
ENST00000343257.6:c.2596-39_2596-36del	ENSP00000339867.2:n.2596-39_2596-36del
NM_000083.2:c.2596-39_2596-36del	NP_000074.2:n.2596-39_2596-36del
NR_046453.1:n.2536-39_2536-36del
XM_011515781.1:c.2620-39_2620-36del	XP_011514083.1:n.2620-39_2620-36del
XM_011515782.1:c.1342-39_1342-36del	XP_011514084.1:n.1342-39_1342-36del
XM_011515782.2:c.1342-39_1342-36del	XP_011514084.1:n.1342-39_1342-36del
XM_017011739.1:c.2170-39_2170-36del	XP_016867228.1:n.2170-39_2170-36del
XM_017011740.1:c.2146-39_2146-36del	XP_016867229.1:n.2146-39_2146-36del
NM_000083.3:c.2596-39_2596-36del MANE Select	NP_000074.3:n.2596-39_2596-36del
NR_046453.2:n.2551-39_2551-36del