Canonical Allele Identifier: CA2814252423

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841933_35841934insACAAAAACCACCAAACACACCCAAC , CM000681.2:g.35841933_35841934insACAAAAACCACCAAACACACCCAAC	GRCh38
NC_000019.9:g.36332835_36332836insACAAAAACCACCAAACACACCCAAC , CM000681.1:g.36332835_36332836insACAAAAACCACCAAACACACCCAAC	GRCh37
NC_000019.8:g.41024675_41024676insACAAAAACCACCAAACACACCCAAC	NCBI36
NG_013356.2:g.32354_32355insGTTGGGTGTGTTTGGTGGTTTTTGT , LRG_693:g.32354_32355insGTTGGGTGTGTTTGGTGGTTTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT MANE Select	ENSP00000368190.4:n.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTT...
ENST00000353632.6:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT	ENSP00000343634.5:n.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTT...
ENST00000378910.9:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT	ENSP00000368190.4:n.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTT...
NM_004646.3:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT , LRG_693t1:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT	NP_004637.1:n.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT
NM_004646.4:c.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT MANE Select	NP_004637.1:n.2664-68_2664-67insGTTGGGTGTGTTTGGTGGTTTTTGT