Canonical Allele Identifier: CA1748894049

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342236_143342238delinsCTG , CM000669.2:g.143342236_143342238delinsCTG	GRCh38
NC_000007.13:g.143039329_143039331delinsCTG , CM000669.1:g.143039329_143039331delinsCTG	GRCh37
NC_000007.12:g.142749451_142749453delinsCTG	NCBI36
NG_009815.1:g.31111_31113delinsCTG
NG_009815.2:g.31111_31113delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+94_1796+96delinsCTG	ENSP00000498052.2:n.1796+94_1796+96delinsCTG
ENST00000343257.7:c.1796+94_1796+96delinsCTG MANE Select	ENSP00000339867.2:n.1796+94_1796+96delinsCTG
ENST00000432192.6:c.1620+94_1620+96delinsCTG
ENST00000343257.6:c.1796+94_1796+96delinsCTG	ENSP00000339867.2:n.1796+94_1796+96delinsCTG
NM_000083.2:c.1796+94_1796+96delinsCTG	NP_000074.2:n.1796+94_1796+96delinsCTG
NR_046453.1:n.1736+94_1736+96delinsCTG
XM_011515781.1:c.1820+94_1820+96delinsCTG	XP_011514083.1:n.1820+94_1820+96delinsCTG
XM_011515782.1:c.542+94_542+96delinsCTG	XP_011514084.1:n.542+94_542+96delinsCTG
XM_011515782.2:c.542+94_542+96delinsCTG	XP_011514084.1:n.542+94_542+96delinsCTG
XM_017011739.1:c.1370+94_1370+96delinsCTG	XP_016867228.1:n.1370+94_1370+96delinsCTG
XM_017011740.1:c.1346+94_1346+96delinsCTG	XP_016867229.1:n.1346+94_1346+96delinsCTG
NM_000083.3:c.1796+94_1796+96delinsCTG MANE Select	NP_000074.3:n.1796+94_1796+96delinsCTG
NR_046453.2:n.1751+94_1751+96delinsCTG