Canonical Allele Identifier: CA1748898442
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1803428548

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352009_143352010insTACCACC , CM000669.2:g.143352009_143352010insTACCACC GRCh38
NC_000007.13:g.143049102_143049103insTACCACC , CM000669.1:g.143049102_143049103insTACCACC GRCh37
NC_000007.12:g.142759224_142759225insTACCACC NCBI36
NG_009815.1:g.40884_40885insTACCACC
NG_009815.2:g.40884_40885insTACCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*44_*45insTACCACC ENSP00000498052.2:n.*44_*45insTACCACC
ENST00000343257.7:c.*44_*45insTACCACC MANE Select ENSP00000339867.2:n.*44_*45insTACCACC
ENST00000343257.6:c.*44_*45insTACCACC ENSP00000339867.2:n.*44_*45insTACCACC
XM_011515781.1:c.*44_*45insTACCACC XP_011514083.1:n.*44_*45insTACCACC
XM_011515782.1:c.*44_*45insTACCACC XP_011514084.1:n.*44_*45insTACCACC
NM_000083.3:c.*44_*45insTACCACC MANE Select NP_000074.3:n.*44_*45insTACCACC
NR_046453.2:n.2966_2967insTACCACC