Canonical Allele Identifier: CA2333850942

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849508_35849509delinsTC , CM000681.2:g.35849508_35849509delinsTC	GRCh38
NC_000019.9:g.36340410_36340411delinsTC , CM000681.1:g.36340410_36340411delinsTC	GRCh37
NC_000019.8:g.41032250_41032251delinsTC	NCBI36
NG_013356.2:g.24779_24780delinsGA , LRG_693:g.24779_24780delinsGA
NG_051206.1:g.2874_2875delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.712+41_712+42delinsGA MANE Select	ENSP00000368190.4:n.712+41_712+42delinsGA
ENST00000353632.6:c.712+41_712+42delinsGA	ENSP00000343634.5:n.712+41_712+42delinsGA
ENST00000378910.9:c.712+41_712+42delinsGA	ENSP00000368190.4:n.712+41_712+42delinsGA
NM_004646.3:c.712+41_712+42delinsGA , LRG_693t1:c.712+41_712+42delinsGA	NP_004637.1:n.712+41_712+42delinsGA
NM_004646.4:c.712+41_712+42delinsGA MANE Select	NP_004637.1:n.712+41_712+42delinsGA