Canonical Allele Identifier: CA2584603332
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845964_35845965insGCCAAC , CM000681.2:g.35845964_35845965insGCCAAC GRCh38
NC_000019.9:g.36336866_36336867insGCCAAC , CM000681.1:g.36336866_36336867insGCCAAC GRCh37
NC_000019.8:g.41028706_41028707insGCCAAC NCBI36
NG_013356.2:g.28323_28324insGTTGGC , LRG_693:g.28323_28324insGTTGGC

Transcript Alleles

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