Canonical Allele Identifier: CA2333849176

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845904_35845905delinsCG , CM000681.2:g.35845904_35845905delinsCG	GRCh38
NC_000019.9:g.36336806_36336807delinsCG , CM000681.1:g.36336806_36336807delinsCG	GRCh37
NC_000019.8:g.41028646_41028647delinsCG	NCBI36
NG_013356.2:g.28383_28384delinsCG , LRG_693:g.28383_28384delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+103_1627+104delinsCG MANE Select	ENSP00000368190.4:n.1627+103_1627+104delinsCG
ENST00000353632.6:c.1627+103_1627+104delinsCG	ENSP00000343634.5:n.1627+103_1627+104delinsCG
ENST00000378910.9:c.1627+103_1627+104delinsCG	ENSP00000368190.4:n.1627+103_1627+104delinsCG
NM_004646.3:c.1627+103_1627+104delinsCG , LRG_693t1:c.1627+103_1627+104delinsCG	NP_004637.1:n.1627+103_1627+104delinsCG
NM_004646.4:c.1627+103_1627+104delinsCG MANE Select	NP_004637.1:n.1627+103_1627+104delinsCG