Canonical Allele Identifier: CA2814252424

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841944_35841945insCAAACACCAAACACACCCAACACA , CM000681.2:g.35841944_35841945insCAAACACCAAACACACCCAACACA	GRCh38
NC_000019.9:g.36332846_36332847insCAAACACCAAACACACCCAACACA , CM000681.1:g.36332846_36332847insCAAACACCAAACACACCCAACACA	GRCh37
NC_000019.8:g.41024686_41024687insCAAACACCAAACACACCCAACACA	NCBI36
NG_013356.2:g.32345_32346insTGTTGGGTGTGTTTGGTGTTTGTG , LRG_693:g.32345_32346insTGTTGGGTGTGTTTGGTGTTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG MANE Select	ENSP00000368190.4:n.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGT...
ENST00000353632.6:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG	ENSP00000343634.5:n.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGT...
ENST00000378910.9:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG	ENSP00000368190.4:n.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGT...
NM_004646.3:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG , LRG_693t1:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG	NP_004637.1:n.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG
NM_004646.4:c.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG MANE Select	NP_004637.1:n.2664-77_2664-76insTGTTGGGTGTGTTTGGTGTTTGTG