Canonical Allele Identifier: CA2555630903

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342197_143342198insTGACCTGGAT , CM000669.2:g.143342197_143342198insTGACCTGGAT	GRCh38
NC_000007.13:g.143039290_143039291insTGACCTGGAT , CM000669.1:g.143039290_143039291insTGACCTGGAT	GRCh37
NC_000007.12:g.142749412_142749413insTGACCTGGAT	NCBI36
NG_009815.1:g.31072_31073insTGACCTGGAT
NG_009815.2:g.31072_31073insTGACCTGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+55_1796+56insTGACCTGGAT	ENSP00000498052.2:n.1796+55_1796+56insTGACCTGGAT
ENST00000343257.7:c.1796+55_1796+56insTGACCTGGAT MANE Select	ENSP00000339867.2:n.1796+55_1796+56insTGACCTGGAT
ENST00000432192.6:c.1620+55_1620+56insTGACCTGGAT
ENST00000343257.6:c.1796+55_1796+56insTGACCTGGAT	ENSP00000339867.2:n.1796+55_1796+56insTGACCTGGAT
NM_000083.2:c.1796+55_1796+56insTGACCTGGAT	NP_000074.2:n.1796+55_1796+56insTGACCTGGAT
NR_046453.1:n.1736+55_1736+56insTGACCTGGAT
XM_011515781.1:c.1820+55_1820+56insTGACCTGGAT	XP_011514083.1:n.1820+55_1820+56insTGACCTGGAT
XM_011515782.1:c.542+55_542+56insTGACCTGGAT	XP_011514084.1:n.542+55_542+56insTGACCTGGAT
XM_011515782.2:c.542+55_542+56insTGACCTGGAT	XP_011514084.1:n.542+55_542+56insTGACCTGGAT
XM_017011739.1:c.1370+55_1370+56insTGACCTGGAT	XP_016867228.1:n.1370+55_1370+56insTGACCTGGAT
XM_017011740.1:c.1346+55_1346+56insTGACCTGGAT	XP_016867229.1:n.1346+55_1346+56insTGACCTGGAT
NM_000083.3:c.1796+55_1796+56insTGACCTGGAT MANE Select	NP_000074.3:n.1796+55_1796+56insTGACCTGGAT
NR_046453.2:n.1751+55_1751+56insTGACCTGGAT