Canonical Allele Identifier: CA2814252917

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845964_35845965insGCCCCCCCCCCCC , CM000681.2:g.35845964_35845965insGCCCCCCCCCCCC	GRCh38
NC_000019.9:g.36336866_36336867insGCCCCCCCCCCCC , CM000681.1:g.36336866_36336867insGCCCCCCCCCCCC	GRCh37
NC_000019.8:g.41028706_41028707insGCCCCCCCCCCCC	NCBI36
NG_013356.2:g.28323_28324insGGGGGGGGGGGGC , LRG_693:g.28323_28324insGGGGGGGGGGGGC

Transcript Alleles

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