Canonical Allele Identifier: CA1748888026

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321362_143321367delinsCAGCCT , CM000669.2:g.143321362_143321367delinsCAGCCT	GRCh38
NC_000007.13:g.143018455_143018460delinsCAGCCT , CM000669.1:g.143018455_143018460delinsCAGCCT	GRCh37
NC_000007.12:g.142728577_142728582delinsCAGCCT	NCBI36
NG_009815.1:g.10237_10242delinsCAGCCT
NG_009815.2:g.10237_10242delinsCAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-3_436delinsCAGCCT
ENST00000343257.7:c.434-3_436delinsCAGCCT
ENST00000432192.6:c.202-3_204delinsCAGCCT
ENST00000650516.1:c.434-3_436delinsCAGCCT
ENST00000343257.6:c.434-3_436delinsCAGCCT
NM_000083.2:c.434-3_436delinsCAGCCT
NR_046453.1:n.521-3_523delinsCAGCCT
XM_011515781.1:c.434-3_436delinsCAGCCT
XM_017011739.1:c.141-3_143delinsCAGCCT
XM_017011740.1:c.141-3_143delinsCAGCCT
NM_000083.3:c.434-3_436delinsCAGCCT
NR_046453.2:n.536-3_538delinsCAGCCT