Canonical Allele Identifier: CA276131
Community Standard Title: NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
Gene: CLCN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321720_143321721delinsTC , CM000669.2:g.143321720_143321721delinsTC GRCh38
NC_000007.13:g.143018813_143018814delinsTC , CM000669.1:g.143018813_143018814delinsTC GRCh37
NC_000007.12:g.142728935_142728936delinsTC NCBI36
NG_009815.1:g.10595_10596delinsTC
NG_009815.2:g.10595_10596delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_000083.3:c.568_569delinsTC MANE Select NP_000074.3:p.Gly190Ser
ENST00000343257.7:c.568_569delinsTC MANE Select ENSP00000339867.2:p.Gly190Ser
NM_000083.2:c.568_569delinsTC NP_000074.2:p.Gly190Ser
NR_046453.1:n.655_656delinsTC
NR_046453.2:n.670_671delinsTC
ENST00000343257.6:c.568_569delinsTC ENSP00000339867.2:p.Gly190Ser
ENST00000432192.5:c.26_27delinsTC
ENST00000432192.6:c.336_337delinsTC
ENST00000455478.5:c.26_27delinsTC
ENST00000455478.6:c.22_23delinsTC ENSP00000400027.2:p.Gly8Ser
ENST00000495612.1:n.26_27delinsTC
ENST00000650516.1:c.568_569delinsTC ENSP00000498052.1:p.Gly190Ser
ENST00000650516.2:c.568_569delinsTC ENSP00000498052.2:p.Gly190Ser
XM_011515781.1:c.568_569delinsTC XP_011514083.1:p.Gly190Ser
XM_017011739.1:c.275_276delinsTC XP_016867228.1:p.Trp92Phe
XM_017011740.1:c.275_276delinsTC XP_016867229.1:p.Trp92Phe
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