Canonical Allele Identifier: CA2685378147

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339112-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339113_143339114del , CM000669.2:g.143339113_143339114del	GRCh38
NC_000007.13:g.143036206_143036207del , CM000669.1:g.143036206_143036207del	GRCh37
NC_000007.12:g.142746328_142746329del	NCBI36
NG_009815.1:g.27988_27989del
NG_009815.2:g.27988_27989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1402-140_1402-139del	ENSP00000498052.2:n.1402-140_1402-139del
ENST00000343257.7:c.1402-140_1402-139del MANE Select	ENSP00000339867.2:n.1402-140_1402-139del
ENST00000432192.6:c.1226-140_1226-139del
ENST00000343257.6:c.1402-140_1402-139del	ENSP00000339867.2:n.1402-140_1402-139del
NM_000083.2:c.1402-140_1402-139del	NP_000074.2:n.1402-140_1402-139del
NR_046453.1:n.1342-140_1342-139del
XM_011515781.1:c.1426-140_1426-139del	XP_011514083.1:n.1426-140_1426-139del
XM_011515782.1:c.148-140_148-139del	XP_011514084.1:n.148-140_148-139del
XM_011515782.2:c.148-140_148-139del	XP_011514084.1:n.148-140_148-139del
XM_017011739.1:c.976-140_976-139del	XP_016867228.1:n.976-140_976-139del
XM_017011740.1:c.952-140_952-139del	XP_016867229.1:n.952-140_952-139del
NM_000083.3:c.1402-140_1402-139del MANE Select	NP_000074.3:n.1402-140_1402-139del
NR_046453.2:n.1357-140_1357-139del