Canonical Allele Identifier: CA2642901917

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5864076-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864078del , CM000663.2:g.5864078del	GRCh38
NC_000001.10:g.5924138del , CM000663.1:g.5924138del	GRCh37
NC_000001.9:g.5846725del	NCBI36
NG_011724.2:g.133395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-44del MANE Select	ENSP00000367398.4:n.3997-44del
ENST00000378156.8:c.3997-44del	ENSP00000367398.4:n.3997-44del
ENST00000378161.5:n.3104del
ENST00000378169.7:c.*2898-44del	ENSP00000367411.3:n.*2898-44del
ENST00000460696.1:n.2745-44del
ENST00000478423.6:n.3729-44del
ENST00000489180.6:c.*1808-44del	ENSP00000423747.1:n.*1808-44del
NM_001291593.1:c.2458-44del	NP_001278522.1:n.2458-44del
NM_001291594.1:c.2461-44del	NP_001278523.1:n.2461-44del
NM_015102.4:c.3997-44del	NP_055917.1:n.3997-44del
NR_111987.1:n.4812-44del
XM_006710563.2:c.3997-44del	XP_006710626.1:n.3997-44del
XM_006710565.2:c.3997-44del	XP_006710628.1:n.3997-44del
XM_011541213.1:c.3994-44del	XP_011539515.1:n.3994-44del
XM_011541214.1:c.3955-44del	XP_011539516.1:n.3955-44del
XM_011541215.1:c.3886-44del	XP_011539517.1:n.3886-44del
XM_011541216.1:c.3997-44del	XP_011539518.1:n.3997-44del
XM_011541217.1:c.3997-44del	XP_011539519.1:n.3997-44del
XM_011541218.1:c.3997-44del	XP_011539520.1:n.3997-44del
XM_011541219.1:c.3943-44del	XP_011539521.1:n.3943-44del
XM_006710563.3:c.3997-44del	XP_006710626.1:n.3997-44del
XM_011541216.2:c.3997-44del	XP_011539518.1:n.3997-44del
XM_011541217.2:c.3997-44del	XP_011539519.1:n.3997-44del
XM_011541218.2:c.3997-44del	XP_011539520.1:n.3997-44del
XM_017000996.1:c.3952-44del	XP_016856485.1:n.3952-44del
XM_017000997.1:c.3997-44del	XP_016856486.1:n.3997-44del
XM_017000999.1:c.3469-44del	XP_016856488.1:n.3469-44del
XM_017001000.2:c.3469-44del	XP_016856489.1:n.3469-44del
XM_017001001.1:c.3199-44del	XP_016856490.1:n.3199-44del
XM_017001003.1:c.2458-44del	XP_016856492.1:n.2458-44del
XR_001737114.1:n.3863-44del
XR_001737115.1:n.3848-44del
NM_015102.5:c.3997-44del MANE Select	NP_055917.1:n.3997-44del
NM_001291593.2:c.2458-44del	NP_001278522.1:n.2458-44del
NM_001291594.2:c.2461-44del	NP_001278523.1:n.2461-44del
NR_111987.2:n.4764-44del