Canonical Allele Identifier: CA2667739606
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

gnomAD v4: 3-132700427-ATTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700432_132700434del , CM000665.2:g.132700432_132700434del GRCh38
NC_000003.11:g.132419276_132419278del , CM000665.1:g.132419276_132419278del GRCh37
NC_000003.10:g.133901966_133901968del NCBI36
NG_008130.1:g.27003_27005del
NG_008130.2:g.27003_27005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1353_1355del (NPHP3) ENSP00000508078.1:p.Lys451del
ENST00000337331.10:c.1647_1649del (NPHP3) MANE Select ENSP00000338766.5:p.Lys549del
ENST00000337331.9:c.1647_1649del (NPHP3) ENSP00000338766.5:p.Lys549del
ENST00000465756.5:c.1353_1355del (NPHP3) ENSP00000419907.1:p.Lys451del
ENST00000469232.5:c.1462_1464del (NPHP3) ENSP00000418664.1:n.1462_1464del
ENST00000471702.2:c.1647_1649del (NPHP3-ACAD11) ENSP00000419763.1:p.Lys549del
ENST00000490993.5:n.1423_1425del (NPHP3)
NM_153240.4:c.1647_1649del (NPHP3) NP_694972.3:p.Lys549del
NR_037804.1:n.1751_1753del (NPHP3-ACAD11)
NM_153240.5:c.1647_1649del (NPHP3) MANE Select NP_694972.3:p.Lys549del
Search 100 bp 5'
Search 100 bp 3'