Canonical Allele Identifier: CA2507749327

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332293_143332294insCCAAATGAAGTTCTACCCCTTCCTACCCTAT , CM000669.2:g.143332293_143332294insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	GRCh38
NC_000007.13:g.143029386_143029387insCCAAATGAAGTTCTACCCCTTCCTACCCTAT , CM000669.1:g.143029386_143029387insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	GRCh37
NC_000007.12:g.142739508_142739509insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	NCBI36
NG_009815.1:g.21168_21169insCCAAATGAAGTTCTACCCCTTCCTACCCTAT
NG_009815.2:g.21168_21169insCCAAATGAAGTTCTACCCCTTCCTACCCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	ENSP00000498052.2:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTT...
ENST00000343257.7:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT MANE Select	ENSP00000339867.2:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTT...
ENST00000432192.6:c.991-126_991-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT
ENST00000343257.6:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	ENSP00000339867.2:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTT...
NM_000083.2:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	NP_000074.2:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACC...
NR_046453.1:n.1257-126_1257-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT
XM_011515781.1:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	XP_011514083.1:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCT...
XM_011515782.1:c.-3-431_-3-430insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	XP_011514084.1:n.-3-431_-3-430insCCAAATGAAGTTCTACCCCTTCCTACCC...
XM_011515782.2:c.-3-431_-3-430insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	XP_011514084.1:n.-3-431_-3-430insCCAAATGAAGTTCTACCCCTTCCTACCC...
XM_017011739.1:c.717-126_717-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	XP_016867228.1:n.717-126_717-125insCCAAATGAAGTTCTACCCCTTCCTAC...
XM_017011740.1:c.717-126_717-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT	XP_016867229.1:n.717-126_717-125insCCAAATGAAGTTCTACCCCTTCCTAC...
NM_000083.3:c.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT MANE Select	NP_000074.3:n.1167-126_1167-125insCCAAATGAAGTTCTACCCCTTCCTACC...
NR_046453.2:n.1272-126_1272-125insCCAAATGAAGTTCTACCCCTTCCTACCCTAT