Canonical Allele Identifier: CA2584603330
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845964_35845965insGCCGA , CM000681.2:g.35845964_35845965insGCCGA GRCh38
NC_000019.9:g.36336866_36336867insGCCGA , CM000681.1:g.36336866_36336867insGCCGA GRCh37
NC_000019.8:g.41028706_41028707insGCCGA NCBI36
NG_013356.2:g.28323_28324insTCGGC , LRG_693:g.28323_28324insTCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+43_1627+44insTCGGC MANE Select ENSP00000368190.4:n.1627+43_1627+44insTCGGC
ENST00000353632.6:c.1627+43_1627+44insTCGGC ENSP00000343634.5:n.1627+43_1627+44insTCGGC
ENST00000378910.9:c.1627+43_1627+44insTCGGC ENSP00000368190.4:n.1627+43_1627+44insTCGGC
NM_004646.3:c.1627+43_1627+44insTCGGC , LRG_693t1:c.1627+43_1627+44insTCGGC NP_004637.1:n.1627+43_1627+44insTCGGC
NM_004646.4:c.1627+43_1627+44insTCGGC MANE Select NP_004637.1:n.1627+43_1627+44insTCGGC