Canonical Allele Identifier: CA2814252623

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849215_35849216insCAAACACACCCAACAC , CM000681.2:g.35849215_35849216insCAAACACACCCAACAC	GRCh38
NC_000019.9:g.36340117_36340118insCAAACACACCCAACAC , CM000681.1:g.36340117_36340118insCAAACACACCCAACAC	GRCh37
NC_000019.8:g.41031957_41031958insCAAACACACCCAACAC	NCBI36
NG_013356.2:g.25073_25074insTGTTGGGTGTGTTTGG , LRG_693:g.25073_25074insTGTTGGGTGTGTTTGG
NG_051206.1:g.2581_2582insCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.840+21_840+22insTGTTGGGTGTGTTTGG MANE Select	ENSP00000368190.4:n.840+21_840+22insTGTTGGGTGTGTTTGG
ENST00000353632.6:c.840+21_840+22insTGTTGGGTGTGTTTGG	ENSP00000343634.5:n.840+21_840+22insTGTTGGGTGTGTTTGG
ENST00000378910.9:c.840+21_840+22insTGTTGGGTGTGTTTGG	ENSP00000368190.4:n.840+21_840+22insTGTTGGGTGTGTTTGG
NM_004646.3:c.840+21_840+22insTGTTGGGTGTGTTTGG , LRG_693t1:c.840+21_840+22insTGTTGGGTGTGTTTGG	NP_004637.1:n.840+21_840+22insTGTTGGGTGTGTTTGG
NM_004646.4:c.840+21_840+22insTGTTGGGTGTGTTTGG MANE Select	NP_004637.1:n.840+21_840+22insTGTTGGGTGTGTTTGG