Canonical Allele Identifier: CA2660636354

Gene: NPHP1

Linked Data

• gnomAD v4: 2-110162949-CATCTTCTTCAACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110162952_110162964del , CM000664.2:g.110162952_110162964del	GRCh38
NC_000002.11:g.110920529_110920541del , CM000664.1:g.110920529_110920541del	GRCh37
NC_000002.10:g.110277818_110277830del	NCBI36
NG_008287.1:g.47101_47113del

Transcript Alleles

HGVS	Amino-acid change
ENST00000445609.7:c.859+86_859+98del MANE Select	ENSP00000389879.3:n.859+86_859+98del
ENST00000674677.1:c.790+86_790+98del	ENSP00000502265.1:n.790+86_790+98del
ENST00000675067.1:c.58+86_58+98del	ENSP00000502817.1:n.58+86_58+98del
ENST00000675356.1:n.1347+86_1347+98del
ENST00000675752.1:n.2444+86_2444+98del
ENST00000676028.1:c.771+1726_771+1738del	ENSP00000502639.1:n.771+1726_771+1738del
ENST00000676053.1:c.670+86_670+98del	ENSP00000502475.1:n.670+86_670+98del
ENST00000676091.1:c.150+1726_150+1738del	ENSP00000502528.1:n.150+1726_150+1738del
ENST00000676165.1:n.2450+86_2450+98del
ENST00000676258.1:n.1950+86_1950+98del
ENST00000316534.8:c.1027+86_1027+98del	ENSP00000313169.4:n.1027+86_1027+98del
ENST00000355301.8:c.670+86_670+98del	ENSP00000347452.4:n.670+86_670+98del
ENST00000393272.7:c.1024+86_1024+98del	ENSP00000376953.3:n.1024+86_1024+98del
ENST00000417665.5:c.856+86_856+98del	ENSP00000402176.1:n.856+86_856+98del
ENST00000445609.6:c.859+86_859+98del	ENSP00000389879.2:n.859+86_859+98del
ENST00000461707.5:n.2444+86_2444+98del
ENST00000496524.5:n.2460+86_2460+98del
NM_000272.3:c.1027+86_1027+98del	NP_000263.2:n.1027+86_1027+98del
NM_001128178.1:c.859+86_859+98del	NP_001121650.1:n.859+86_859+98del
NM_001128179.1:c.670+86_670+98del	NP_001121651.1:n.670+86_670+98del
NM_207181.2:c.1024+86_1024+98del	NP_997064.2:n.1024+86_1024+98del
XM_005263675.1:c.1024+86_1024+98del	XP_005263732.1:n.1024+86_1024+98del
XM_005263676.1:c.859+86_859+98del	XP_005263733.1:n.859+86_859+98del
XM_005263677.1:c.856+86_856+98del	XP_005263734.1:n.856+86_856+98del
XM_005263678.2:c.1027+86_1027+98del	XP_005263735.1:n.1027+86_1027+98del
XM_005263679.1:c.856+86_856+98del	XP_005263736.1:n.856+86_856+98del
XM_006712551.1:c.1027+86_1027+98del	XP_006712614.1:n.1027+86_1027+98del
XM_006712552.2:c.1027+86_1027+98del	XP_006712615.1:n.1027+86_1027+98del
XM_011511244.1:c.1027+86_1027+98del	XP_011509546.1:n.1027+86_1027+98del
XM_017004218.1:c.859+86_859+98del	XP_016859707.1:n.859+86_859+98del
NM_000272.4:c.1027+86_1027+98del	NP_000263.2:n.1027+86_1027+98del
NM_001128178.3:c.859+86_859+98del MANE Select	NP_001121650.1:n.859+86_859+98del
NM_001128179.2:c.670+86_670+98del	NP_001121651.1:n.670+86_670+98del
NM_001374256.1:c.856+86_856+98del	NP_001361185.1:n.856+86_856+98del
NM_001374257.1:c.859+86_859+98del	NP_001361186.1:n.859+86_859+98del
NM_207181.3:c.1024+86_1024+98del	NP_997064.2:n.1024+86_1024+98del
NM_000272.5:c.1027+86_1027+98del	NP_000263.2:n.1027+86_1027+98del
NM_001128179.3:c.670+86_670+98del	NP_001121651.1:n.670+86_670+98del
NM_207181.4:c.1024+86_1024+98del	NP_997064.2:n.1024+86_1024+98del