Canonical Allele Identifier: CA2201646809

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447342_1447345delinsCCTG , CM000678.2:g.1447342_1447345delinsCCTG	GRCh38
NC_000016.9:g.1497343_1497346delinsCCTG , CM000678.1:g.1497343_1497346delinsCCTG	GRCh37
NC_000016.8:g.1437344_1437347delinsCCTG	NCBI36
NG_007567.1:g.32740_32743delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+47_2250+50delinsCAGG	ENSP00000514703.1:n.2250+47_2250+50delinsCAGG
ENST00000699948.1:c.*563+47_*563+50delinsCAGG	ENSP00000514704.1:n.*563+47_*563+50delinsCAGG
ENST00000382745.9:c.2250+47_2250+50delinsCAGG MANE Select	ENSP00000372193.4:n.2250+47_2250+50delinsCAGG
ENST00000262318.12:c.2182+43_2182+46delinsCAGG	ENSP00000262318.8:n.2182+43_2182+46delinsCAGG
ENST00000382745.8:c.2250+47_2250+50delinsCAGG	ENSP00000372193.4:n.2250+47_2250+50delinsCAGG
ENST00000448525.5:c.2178+47_2178+50delinsCAGG	ENSP00000410907.1:n.2178+47_2178+50delinsCAGG
ENST00000563642.6:n.2319+47_2319+50delinsCAGG
ENST00000565092.6:n.1285+47_1285+50delinsCAGG
ENST00000567836.2:n.491+47_491+50delinsCAGG
NM_001114331.2:c.2178+47_2178+50delinsCAGG	NP_001107803.1:n.2178+47_2178+50delinsCAGG
NM_001287.5:c.2250+47_2250+50delinsCAGG	NP_001278.1:n.2250+47_2250+50delinsCAGG
XM_011522354.1:c.2076+47_2076+50delinsCAGG	XP_011520656.1:n.2076+47_2076+50delinsCAGG
NM_001287.6:c.2250+47_2250+50delinsCAGG MANE Select	NP_001278.1:n.2250+47_2250+50delinsCAGG
NM_001114331.3:c.2178+47_2178+50delinsCAGG	NP_001107803.1:n.2178+47_2178+50delinsCAGG