Canonical Allele Identifier: CA521016949

Gene: NPHP4

Linked Data

• dbSNP Id: rs1303703776
• gnomAD v2: 1-5924167-CCT-C
• gnomAD v3: 1-5864107-CCT-C
• gnomAD v4: 1-5864107-CCT-C
• MyVariant Identifiers: chr1:g.5924168_5924169del (hg19) ; chr1:g.5864108_5864109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864108_5864109del , CM000663.2:g.5864108_5864109del	GRCh38
NC_000001.10:g.5924168_5924169del , CM000663.1:g.5924168_5924169del	GRCh37
NC_000001.9:g.5846755_5846756del	NCBI36
NG_011724.2:g.133363_133364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.3997-76_3997-75del MANE Select	ENSP00000367398.4:n.3997-76_3997-75del
ENST00000378156.8:c.3997-76_3997-75del	ENSP00000367398.4:n.3997-76_3997-75del
ENST00000378161.5:n.3072_3073del
ENST00000378169.7:c.*2898-76_*2898-75del	ENSP00000367411.3:n.*2898-76_*2898-75del
ENST00000460696.1:n.2745-76_2745-75del
ENST00000478423.6:n.3729-76_3729-75del
ENST00000489180.6:c.*1808-76_*1808-75del	ENSP00000423747.1:n.*1808-76_*1808-75del
NM_001291593.1:c.2458-76_2458-75del	NP_001278522.1:n.2458-76_2458-75del
NM_001291594.1:c.2461-76_2461-75del	NP_001278523.1:n.2461-76_2461-75del
NM_015102.4:c.3997-76_3997-75del	NP_055917.1:n.3997-76_3997-75del
NR_111987.1:n.4812-76_4812-75del
XM_006710563.2:c.3997-76_3997-75del	XP_006710626.1:n.3997-76_3997-75del
XM_006710565.2:c.3997-76_3997-75del	XP_006710628.1:n.3997-76_3997-75del
XM_011541213.1:c.3994-76_3994-75del	XP_011539515.1:n.3994-76_3994-75del
XM_011541214.1:c.3955-76_3955-75del	XP_011539516.1:n.3955-76_3955-75del
XM_011541215.1:c.3886-76_3886-75del	XP_011539517.1:n.3886-76_3886-75del
XM_011541216.1:c.3997-76_3997-75del	XP_011539518.1:n.3997-76_3997-75del
XM_011541217.1:c.3997-76_3997-75del	XP_011539519.1:n.3997-76_3997-75del
XM_011541218.1:c.3997-76_3997-75del	XP_011539520.1:n.3997-76_3997-75del
XM_011541219.1:c.3943-76_3943-75del	XP_011539521.1:n.3943-76_3943-75del
XM_006710563.3:c.3997-76_3997-75del	XP_006710626.1:n.3997-76_3997-75del
XM_011541216.2:c.3997-76_3997-75del	XP_011539518.1:n.3997-76_3997-75del
XM_011541217.2:c.3997-76_3997-75del	XP_011539519.1:n.3997-76_3997-75del
XM_011541218.2:c.3997-76_3997-75del	XP_011539520.1:n.3997-76_3997-75del
XM_017000996.1:c.3952-76_3952-75del	XP_016856485.1:n.3952-76_3952-75del
XM_017000997.1:c.3997-76_3997-75del	XP_016856486.1:n.3997-76_3997-75del
XM_017000999.1:c.3469-76_3469-75del	XP_016856488.1:n.3469-76_3469-75del
XM_017001000.2:c.3469-76_3469-75del	XP_016856489.1:n.3469-76_3469-75del
XM_017001001.1:c.3199-76_3199-75del	XP_016856490.1:n.3199-76_3199-75del
XM_017001003.1:c.2458-76_2458-75del	XP_016856492.1:n.2458-76_2458-75del
XR_001737114.1:n.3863-76_3863-75del
XR_001737115.1:n.3848-76_3848-75del
NM_015102.5:c.3997-76_3997-75del MANE Select	NP_055917.1:n.3997-76_3997-75del
NM_001291593.2:c.2458-76_2458-75del	NP_001278522.1:n.2458-76_2458-75del
NM_001291594.2:c.2461-76_2461-75del	NP_001278523.1:n.2461-76_2461-75del
NR_111987.2:n.4764-76_4764-75del