Canonical Allele Identifier: CA1748889035

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331051_143331052delinsAG , CM000669.2:g.143331051_143331052delinsAG	GRCh38
NC_000007.13:g.143028144_143028145delinsAG , CM000669.1:g.143028144_143028145delinsAG	GRCh37
NC_000007.12:g.142738266_142738267delinsAG	NCBI36
NG_009815.1:g.19926_19927delinsAG
NG_009815.2:g.19926_19927delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+154_979+155delinsAG	ENSP00000498052.2:n.979+154_979+155delinsAG
ENST00000343257.7:c.979+154_979+155delinsAG MANE Select	ENSP00000339867.2:n.979+154_979+155delinsAG
ENST00000432192.6:c.803+154_803+155delinsAG
ENST00000343257.6:c.979+154_979+155delinsAG	ENSP00000339867.2:n.979+154_979+155delinsAG
NM_000083.2:c.979+154_979+155delinsAG	NP_000074.2:n.979+154_979+155delinsAG
NR_046453.1:n.1069+154_1069+155delinsAG
XM_011515781.1:c.979+154_979+155delinsAG	XP_011514083.1:n.979+154_979+155delinsAG
XM_017011739.1:c.529+154_529+155delinsAG	XP_016867228.1:n.529+154_529+155delinsAG
XM_017011740.1:c.529+154_529+155delinsAG	XP_016867229.1:n.529+154_529+155delinsAG
NM_000083.3:c.979+154_979+155delinsAG MANE Select	NP_000074.3:n.979+154_979+155delinsAG
NR_046453.2:n.1084+154_1084+155delinsAG