Canonical Allele Identifier: CA1748888981

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330960_143330963delinsGGAA , CM000669.2:g.143330960_143330963delinsGGAA	GRCh38
NC_000007.13:g.143028053_143028056delinsGGAA , CM000669.1:g.143028053_143028056delinsGGAA	GRCh37
NC_000007.12:g.142738175_142738178delinsGGAA	NCBI36
NG_009815.1:g.19835_19838delinsGGAA
NG_009815.2:g.19835_19838delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+63_979+66delinsGGAA	ENSP00000498052.2:n.979+63_979+66delinsGGAA
ENST00000343257.7:c.979+63_979+66delinsGGAA MANE Select	ENSP00000339867.2:n.979+63_979+66delinsGGAA
ENST00000432192.6:c.803+63_803+66delinsGGAA
ENST00000343257.6:c.979+63_979+66delinsGGAA	ENSP00000339867.2:n.979+63_979+66delinsGGAA
NM_000083.2:c.979+63_979+66delinsGGAA	NP_000074.2:n.979+63_979+66delinsGGAA
NR_046453.1:n.1069+63_1069+66delinsGGAA
XM_011515781.1:c.979+63_979+66delinsGGAA	XP_011514083.1:n.979+63_979+66delinsGGAA
XM_017011739.1:c.529+63_529+66delinsGGAA	XP_016867228.1:n.529+63_529+66delinsGGAA
XM_017011740.1:c.529+63_529+66delinsGGAA	XP_016867229.1:n.529+63_529+66delinsGGAA
NM_000083.3:c.979+63_979+66delinsGGAA MANE Select	NP_000074.3:n.979+63_979+66delinsGGAA
NR_046453.2:n.1084+63_1084+66delinsGGAA