Canonical Allele Identifier: CA1748898469

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143352052_143352053delinsGC , CM000669.2:g.143352052_143352053delinsGC	GRCh38
NC_000007.13:g.143049145_143049146delinsGC , CM000669.1:g.143049145_143049146delinsGC	GRCh37
NC_000007.12:g.142759267_142759268delinsGC	NCBI36
NG_009815.1:g.40927_40928delinsGC
NG_009815.2:g.40927_40928delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*87_*88delinsGC	ENSP00000498052.2:n.*87_*88delinsGC
ENST00000343257.7:c.*87_*88delinsGC MANE Select	ENSP00000339867.2:n.*87_*88delinsGC
ENST00000343257.6:c.*87_*88delinsGC	ENSP00000339867.2:n.*87_*88delinsGC
XM_011515781.1:c.*87_*88delinsGC	XP_011514083.1:n.*87_*88delinsGC
XM_011515782.1:c.*87_*88delinsGC	XP_011514084.1:n.*87_*88delinsGC
NM_000083.3:c.*87_*88delinsGC MANE Select	NP_000074.3:n.*87_*88delinsGC
NR_046453.2:n.3009_3010delinsGC