Canonical Allele Identifier: CA2584603252
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845886_35845887insGCTCCCCCAG , CM000681.2:g.35845886_35845887insGCTCCCCCAG GRCh38
NC_000019.9:g.36336788_36336789insGCTCCCCCAG , CM000681.1:g.36336788_36336789insGCTCCCCCAG GRCh37
NC_000019.8:g.41028628_41028629insGCTCCCCCAG NCBI36
NG_013356.2:g.28406_28407insGGAGCCTGGG , LRG_693:g.28406_28407insGGAGCCTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1628-84_1628-83insGGAGCCTGGG MANE Select ENSP00000368190.4:n.1628-84_1628-83insGGAGCCTGGG
ENST00000353632.6:c.1628-84_1628-83insGGAGCCTGGG ENSP00000343634.5:n.1628-84_1628-83insGGAGCCTGGG
ENST00000378910.9:c.1628-84_1628-83insGGAGCCTGGG ENSP00000368190.4:n.1628-84_1628-83insGGAGCCTGGG
NM_004646.3:c.1628-84_1628-83insGGAGCCTGGG , LRG_693t1:c.1628-84_1628-83insGGAGCCTGGG NP_004637.1:n.1628-84_1628-83insGGAGCCTGGG
NM_004646.4:c.1628-84_1628-83insGGAGCCTGGG MANE Select NP_004637.1:n.1628-84_1628-83insGGAGCCTGGG