Canonical Allele Identifier: CA2561855752
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559861_179559862insTTTTT , CM000663.2:g.179559861_179559862insTTTTT GRCh38
NC_000001.10:g.179528996_179528997insTTTTT , CM000663.1:g.179528996_179528997insTTTTT GRCh37
NC_000001.9:g.177795619_177795620insTTTTT NCBI36
NG_007535.1:g.21090_21091insAAAAA , LRG_887:g.21090_21091insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.452-99_452-98insAAAAA MANE Select ENSP00000356587.4:n.452-99_452-98insAAAAA
ENST00000367615.8:c.452-99_452-98insAAAAA ENSP00000356587.4:n.452-99_452-98insAAAAA
ENST00000367616.4:c.452-99_452-98insAAAAA ENSP00000356588.4:n.452-99_452-98insAAAAA
NM_001297575.1:c.452-99_452-98insAAAAA NP_001284504.1:n.452-99_452-98insAAAAA
NM_014625.3:c.452-99_452-98insAAAAA , LRG_887t1:c.452-99_452-98insAAAAA NP_055440.1:n.452-99_452-98insAAAAA
XM_005245483.2:c.275-99_275-98insAAAAA XP_005245540.1:n.275-99_275-98insAAAAA
XM_006711529.2:c.452-99_452-98insAAAAA XP_006711592.1:n.452-99_452-98insAAAAA
XM_005245483.3:c.275-99_275-98insAAAAA XP_005245540.1:n.275-99_275-98insAAAAA
XM_017002298.1:c.379-99_379-98insAAAAA XP_016857787.1:n.379-99_379-98insAAAAA
XM_017002299.1:c.452-99_452-98insAAAAA XP_016857788.1:n.452-99_452-98insAAAAA
NM_001297575.2:c.452-99_452-98insAAAAA NP_001284504.1:n.452-99_452-98insAAAAA
NM_014625.4:c.452-99_452-98insAAAAA MANE Select NP_055440.1:n.452-99_452-98insAAAAA