Canonical Allele Identifier: CA2630990054

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447165-ACCCCCCACCACGGCGTCCAGGCACGTCCTGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447171_1447202del , CM000678.2:g.1447171_1447202del	GRCh38
NC_000016.9:g.1497172_1497203del , CM000678.1:g.1497172_1497203del	GRCh37
NC_000016.8:g.1437173_1437204del	NCBI36
NG_007567.1:g.32888_32919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-111_2251-80del	ENSP00000514703.1:n.2251-111_2251-80del
ENST00000699948.1:c.*564-111_*564-80del	ENSP00000514704.1:n.*564-111_*564-80del
ENST00000382745.9:c.2251-111_2251-80del MANE Select	ENSP00000372193.4:n.2251-111_2251-80del
ENST00000262318.12:c.2183-114_2183-83del	ENSP00000262318.8:n.2183-114_2183-83del
ENST00000382745.8:c.2251-111_2251-80del	ENSP00000372193.4:n.2251-111_2251-80del
ENST00000448525.5:c.2179-111_2179-80del	ENSP00000410907.1:n.2179-111_2179-80del
ENST00000563642.6:n.2320-111_2320-80del
ENST00000565092.6:n.1286-111_1286-80del
ENST00000567836.2:n.492-111_492-80del
NM_001114331.2:c.2179-111_2179-80del	NP_001107803.1:n.2179-111_2179-80del
NM_001287.5:c.2251-111_2251-80del	NP_001278.1:n.2251-111_2251-80del
XM_011522354.1:c.2077-111_2077-80del	XP_011520656.1:n.2077-111_2077-80del
NM_001287.6:c.2251-111_2251-80del MANE Select	NP_001278.1:n.2251-111_2251-80del
NM_001114331.3:c.2179-111_2179-80del	NP_001107803.1:n.2179-111_2179-80del