Canonical Allele Identifier: CA2778230908

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324508_143324509insA , CM000669.2:g.143324508_143324509insA	GRCh38
NC_000007.13:g.143021601_143021602insA , CM000669.1:g.143021601_143021602insA	GRCh37
NC_000007.12:g.142731723_142731724insA	NCBI36
NG_009815.1:g.13383_13384insA
NG_009815.2:g.13383_13384insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+611_853+612insA	ENSP00000498052.2:n.853+611_853+612insA
ENST00000343257.7:c.853+16_853+17insA MANE Select	ENSP00000339867.2:n.853+16_853+17insA
ENST00000432192.6:c.677+16_677+17insA
ENST00000455478.6:c.441+16_441+17insA	ENSP00000400027.2:n.441+16_441+17insA
ENST00000650516.1:c.853+611_853+612insA	ENSP00000498052.1:n.853+611_853+612insA
ENST00000343257.6:c.853+16_853+17insA	ENSP00000339867.2:n.853+16_853+17insA
ENST00000432192.5:c.367+16_367+17insA
ENST00000455478.5:c.445+16_445+17insA
ENST00000495612.1:n.154+2660_154+2661insA
NM_000083.2:c.853+16_853+17insA	NP_000074.2:n.853+16_853+17insA
NR_046453.1:n.943+16_943+17insA
XM_011515781.1:c.853+611_853+612insA	XP_011514083.1:n.853+611_853+612insA
XM_017011739.1:c.403+2660_403+2661insA	XP_016867228.1:n.403+2660_403+2661insA
XM_017011740.1:c.403+2660_403+2661insA	XP_016867229.1:n.403+2660_403+2661insA
NM_000083.3:c.853+16_853+17insA MANE Select	NP_000074.3:n.853+16_853+17insA
NR_046453.2:n.958+16_958+17insA