Canonical Allele Identifier: CA2685382737

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321264_143321267del , CM000669.2:g.143321264_143321267del	GRCh38
NC_000007.13:g.143018357_143018360del , CM000669.1:g.143018357_143018360del	GRCh37
NC_000007.12:g.142728479_142728482del	NCBI36
NG_009815.1:g.10139_10142del
NG_009815.2:g.10139_10142del

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.434-101_434-98del MANE Select	NP_000074.3:n.434-101_434-98del
ENST00000343257.7:c.434-101_434-98del MANE Select	ENSP00000339867.2:n.434-101_434-98del
NM_000083.2:c.434-101_434-98del	NP_000074.2:n.434-101_434-98del
NR_046453.1:n.521-101_521-98del
NR_046453.2:n.536-101_536-98del
ENST00000343257.6:c.434-101_434-98del	ENSP00000339867.2:n.434-101_434-98del
ENST00000432192.6:c.202-101_202-98del
ENST00000650516.1:c.434-101_434-98del	ENSP00000498052.1:n.434-101_434-98del
ENST00000650516.2:c.434-101_434-98del	ENSP00000498052.2:n.434-101_434-98del
XM_011515781.1:c.434-101_434-98del	XP_011514083.1:n.434-101_434-98del
XM_017011739.1:c.141-101_141-98del	XP_016867228.1:n.141-101_141-98del
XM_017011740.1:c.141-101_141-98del	XP_016867229.1:n.141-101_141-98del