Canonical Allele Identifier: CA2685383390

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321865-T-TGAAGCCAGAGCTGGGAGGGGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321888_143321889insCCGAAGCCAGAGCTGGGAGGGGCCC , CM000669.2:g.143321888_143321889insCCGAAGCCAGAGCTGGGAGGGGCCC	GRCh38
NC_000007.13:g.143018981_143018982insCCGAAGCCAGAGCTGGGAGGGGCCC , CM000669.1:g.143018981_143018982insCCGAAGCCAGAGCTGGGAGGGGCCC	GRCh37
NC_000007.12:g.142729103_142729104insCCGAAGCCAGAGCTGGGAGGGGCCC	NCBI36
NG_009815.1:g.10763_10764insCCGAAGCCAGAGCTGGGAGGGGCCC
NG_009815.2:g.10763_10764insCCGAAGCCAGAGCTGGGAGGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC	ENSP00000498052.2:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC...
ENST00000343257.7:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC MANE Select	ENSP00000339867.2:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC...
ENST00000432192.6:c.464+40_464+41insCCGAAGCCAGAGCTGGGAGGGGCCC
ENST00000455478.6:c.150+40_150+41insCCGAAGCCAGAGCTGGGAGGGGCCC	ENSP00000400027.2:n.150+40_150+41insCCGAAGCCAGAGCTGGGAGGGGCCC...
ENST00000650516.1:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC	ENSP00000498052.1:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC...
ENST00000343257.6:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC	ENSP00000339867.2:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC...
ENST00000432192.5:c.154+40_154+41insCCGAAGCCAGAGCTGGGAGGGGCCC
ENST00000455478.5:c.154+40_154+41insCCGAAGCCAGAGCTGGGAGGGGCCC
ENST00000495612.1:n.154+40_154+41insCCGAAGCCAGAGCTGGGAGGGGCCC
NM_000083.2:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC	NP_000074.2:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC
NR_046453.1:n.783+40_783+41insCCGAAGCCAGAGCTGGGAGGGGCCC
XM_011515781.1:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC	XP_011514083.1:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC
XM_017011739.1:c.403+40_403+41insCCGAAGCCAGAGCTGGGAGGGGCCC	XP_016867228.1:n.403+40_403+41insCCGAAGCCAGAGCTGGGAGGGGCCC
XM_017011740.1:c.403+40_403+41insCCGAAGCCAGAGCTGGGAGGGGCCC	XP_016867229.1:n.403+40_403+41insCCGAAGCCAGAGCTGGGAGGGGCCC
NM_000083.3:c.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC MANE Select	NP_000074.3:n.696+40_696+41insCCGAAGCCAGAGCTGGGAGGGGCCC
NR_046453.2:n.798+40_798+41insCCGAAGCCAGAGCTGGGAGGGGCCC