Canonical Allele Identifier: CA10615345

Gene: NPHP3 NPHP3-ACAD11

Linked Data

• ClinVar Variation Id: 343372
• ClinVar RCV Id: RCV000290297 ; RCV000339489 ; RCV000377640
• dbSNP Id: rs371974858
• gnomAD v2: 3-132400630-TAGC-T
• gnomAD v3: 3-132681786-TAGC-T
• gnomAD v4: 3-132681786-TAGC-T
• MyVariant Identifiers: chr3:g.132400631_132400633del (hg19) ; chr3:g.132681787_132681789del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132681789_132681791del , CM000665.2:g.132681789_132681791del	GRCh38
NC_000003.11:g.132400633_132400635del , CM000665.1:g.132400633_132400635del	GRCh37
NC_000003.10:g.133883323_133883325del	NCBI36
NG_008130.1:g.45644_45646del
NG_008130.2:g.45644_45646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684294.1:c.*2042_*2044del (NPHP3)	ENSP00000508078.1:n.*2042_*2044del
ENST00000337331.10:c.*121_*123del (NPHP3) MANE Select	ENSP00000338766.5:n.*121_*123del
ENST00000337331.9:c.*121_*123del (NPHP3)	ENSP00000338766.5:n.*121_*123del
ENST00000465756.5:c.*2022_*2024del (NPHP3)	ENSP00000419907.1:n.*2022_*2024del
ENST00000471702.2:c.*1980+125_*1980+127del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+125_*1980+127de...
ENST00000474871.5:n.3313_3315del (NPHP3)
ENST00000490993.5:n.4839_4841del (NPHP3)
ENST00000493732.5:n.1426_1428del (NPHP3)
ENST00000512094.5:c.560_562del (NPHP3)	ENSP00000427666.1:n.560_562del
ENST00000632629.1:c.636+125_636+127del (NPHP3-ACAD11)
NM_153240.4:c.*121_*123del (NPHP3)	NP_694972.3:n.*121_*123del
NR_037804.1:n.3995+125_3995+127del (NPHP3-ACAD11)
NM_153240.5:c.*121_*123del (NPHP3) MANE Select	NP_694972.3:n.*121_*123del