Canonical Allele Identifier: CA834515498

Gene: CLCN1

Linked Data

• dbSNP Id: rs1160922907
• gnomAD v3: 7-143342236-CTG-C
• gnomAD v4: 7-143342236-CTG-C
• MyVariant Identifiers: chr7:g.143039330_143039331del (hg19) ; chr7:g.143342237_143342238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342238_143342239del , CM000669.2:g.143342238_143342239del	GRCh38
NC_000007.13:g.143039331_143039332del , CM000669.1:g.143039331_143039332del	GRCh37
NC_000007.12:g.142749453_142749454del	NCBI36
NG_009815.1:g.31113_31114del
NG_009815.2:g.31113_31114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+96_1796+97del	ENSP00000498052.2:n.1796+96_1796+97del
ENST00000343257.7:c.1796+96_1796+97del MANE Select	ENSP00000339867.2:n.1796+96_1796+97del
ENST00000432192.6:c.1620+96_1620+97del
ENST00000343257.6:c.1796+96_1796+97del	ENSP00000339867.2:n.1796+96_1796+97del
NM_000083.2:c.1796+96_1796+97del	NP_000074.2:n.1796+96_1796+97del
NR_046453.1:n.1736+96_1736+97del
XM_011515781.1:c.1820+96_1820+97del	XP_011514083.1:n.1820+96_1820+97del
XM_011515782.1:c.542+96_542+97del	XP_011514084.1:n.542+96_542+97del
XM_011515782.2:c.542+96_542+97del	XP_011514084.1:n.542+96_542+97del
XM_017011739.1:c.1370+96_1370+97del	XP_016867228.1:n.1370+96_1370+97del
XM_017011740.1:c.1346+96_1346+97del	XP_016867229.1:n.1346+96_1346+97del
NM_000083.3:c.1796+96_1796+97del MANE Select	NP_000074.3:n.1796+96_1796+97del
NR_046453.2:n.1751+96_1751+97del