Canonical Allele Identifier: CA1748889572

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332324_143332328delinsCGGTG , CM000669.2:g.143332324_143332328delinsCGGTG	GRCh38
NC_000007.13:g.143029417_143029421delinsCGGTG , CM000669.1:g.143029417_143029421delinsCGGTG	GRCh37
NC_000007.12:g.142739539_142739543delinsCGGTG	NCBI36
NG_009815.1:g.21199_21203delinsCGGTG
NG_009815.2:g.21199_21203delinsCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-95_1167-91delinsCGGTG	ENSP00000498052.2:n.1167-95_1167-91delinsCGGTG
ENST00000343257.7:c.1167-95_1167-91delinsCGGTG MANE Select	ENSP00000339867.2:n.1167-95_1167-91delinsCGGTG
ENST00000432192.6:c.991-95_991-91delinsCGGTG
ENST00000343257.6:c.1167-95_1167-91delinsCGGTG	ENSP00000339867.2:n.1167-95_1167-91delinsCGGTG
NM_000083.2:c.1167-95_1167-91delinsCGGTG	NP_000074.2:n.1167-95_1167-91delinsCGGTG
NR_046453.1:n.1257-95_1257-91delinsCGGTG
XM_011515781.1:c.1167-95_1167-91delinsCGGTG	XP_011514083.1:n.1167-95_1167-91delinsCGGTG
XM_011515782.1:c.-3-400_-3-396delinsCGGTG	XP_011514084.1:n.-3-400_-3-396delinsCGGTG
XM_011515782.2:c.-3-400_-3-396delinsCGGTG	XP_011514084.1:n.-3-400_-3-396delinsCGGTG
XM_017011739.1:c.717-95_717-91delinsCGGTG	XP_016867228.1:n.717-95_717-91delinsCGGTG
XM_017011740.1:c.717-95_717-91delinsCGGTG	XP_016867229.1:n.717-95_717-91delinsCGGTG
NM_000083.3:c.1167-95_1167-91delinsCGGTG MANE Select	NP_000074.3:n.1167-95_1167-91delinsCGGTG
NR_046453.2:n.1272-95_1272-91delinsCGGTG