Canonical Allele Identifier: CA2580096881
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2012073
ClinVar RCV Id: RCV002838883
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848647_35848648insAA , CM000681.2:g.35848647_35848648insAA GRCh38
NC_000019.9:g.36339549_36339550insAA , CM000681.1:g.36339549_36339550insAA GRCh37
NC_000019.8:g.41031389_41031390insAA NCBI36
NG_013356.2:g.25640_25641insTT , LRG_693:g.25640_25641insTT
NG_051206.1:g.2013_2014insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1159_1160insTT MANE Select ENSP00000368190.4:p.Thr387IlefsTer17
ENST00000353632.6:c.1159_1160insTT ENSP00000343634.5:p.Thr387IlefsTer17
ENST00000378910.9:c.1159_1160insTT ENSP00000368190.4:p.Thr387IlefsTer17
ENST00000592132.1:n.166_167insTT
NM_004646.3:c.1159_1160insTT , LRG_693t1:c.1159_1160insTT NP_004637.1:p.Thr387IlefsTer17
NM_004646.4:c.1159_1160insTT MANE Select NP_004637.1:p.Thr387IlefsTer17
Search 100 bp 5'
Search 100 bp 3'