Canonical Allele Identifier: CA2630989916

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447112-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447114_1447115del , CM000678.2:g.1447114_1447115del	GRCh38
NC_000016.9:g.1497115_1497116del , CM000678.1:g.1497115_1497116del	GRCh37
NC_000016.8:g.1437116_1437117del	NCBI36
NG_007567.1:g.32971_32972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-28_2251-27del	ENSP00000514703.1:n.2251-28_2251-27del
ENST00000699948.1:c.*564-28_*564-27del	ENSP00000514704.1:n.*564-28_*564-27del
ENST00000382745.9:c.2251-28_2251-27del MANE Select	ENSP00000372193.4:n.2251-28_2251-27del
ENST00000262318.12:c.2183-31_2183-30del	ENSP00000262318.8:n.2183-31_2183-30del
ENST00000382745.8:c.2251-28_2251-27del	ENSP00000372193.4:n.2251-28_2251-27del
ENST00000448525.5:c.2179-28_2179-27del	ENSP00000410907.1:n.2179-28_2179-27del
ENST00000563642.6:n.2320-28_2320-27del
ENST00000565092.6:n.1286-28_1286-27del
ENST00000567836.2:n.492-28_492-27del
NM_001114331.2:c.2179-28_2179-27del	NP_001107803.1:n.2179-28_2179-27del
NM_001287.5:c.2251-28_2251-27del	NP_001278.1:n.2251-28_2251-27del
XM_011522354.1:c.2077-28_2077-27del	XP_011520656.1:n.2077-28_2077-27del
NM_001287.6:c.2251-28_2251-27del MANE Select	NP_001278.1:n.2251-28_2251-27del
NM_001114331.3:c.2179-28_2179-27del	NP_001107803.1:n.2179-28_2179-27del