Canonical Allele Identifier: CA2630990163

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447218-GCCCCCTCAGCCCCTTGACTTCAGCTCTAAAGCCTGCCAGGCCCTTCACAGGAGACAGAGTCACCGAGTCCTCTCCGCTGTGGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447223_1447308del , CM000678.2:g.1447223_1447308del	GRCh38
NC_000016.9:g.1497224_1497309del , CM000678.1:g.1497224_1497309del	GRCh37
NC_000016.8:g.1437225_1437310del	NCBI36
NG_007567.1:g.32781_32866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+88_2251-133del	ENSP00000514703.1:n.2250+88_2251-133del
ENST00000699948.1:c.*563+88_*564-133del	ENSP00000514704.1:n.*563+88_*564-133del
ENST00000382745.9:c.2250+88_2251-133del MANE Select	ENSP00000372193.4:n.2250+88_2251-133del
ENST00000262318.12:c.2182+84_2183-136del	ENSP00000262318.8:n.2182+84_2183-136del
ENST00000382745.8:c.2250+88_2251-133del	ENSP00000372193.4:n.2250+88_2251-133del
ENST00000448525.5:c.2178+88_2179-133del	ENSP00000410907.1:n.2178+88_2179-133del
ENST00000563642.6:n.2319+88_2320-133del
ENST00000565092.6:n.1285+88_1286-133del
ENST00000567836.2:n.491+88_492-133del
NM_001114331.2:c.2178+88_2179-133del	NP_001107803.1:n.2178+88_2179-133del
NM_001287.5:c.2250+88_2251-133del	NP_001278.1:n.2250+88_2251-133del
XM_011522354.1:c.2076+88_2077-133del	XP_011520656.1:n.2076+88_2077-133del
NM_001287.6:c.2250+88_2251-133del MANE Select	NP_001278.1:n.2250+88_2251-133del
NM_001114331.3:c.2178+88_2179-133del	NP_001107803.1:n.2178+88_2179-133del