Canonical Allele Identifier: CA2584603971

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35849501-TGCCTGCTCCCCATCCTCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849505_35849524del , CM000681.2:g.35849505_35849524del	GRCh38
NC_000019.9:g.36340407_36340426del , CM000681.1:g.36340407_36340426del	GRCh37
NC_000019.8:g.41032247_41032266del	NCBI36
NG_013356.2:g.24767_24786del , LRG_693:g.24767_24786del
NG_051206.1:g.2871_2890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.712+29_712+48del MANE Select	ENSP00000368190.4:n.712+29_712+48del
ENST00000353632.6:c.712+29_712+48del	ENSP00000343634.5:n.712+29_712+48del
ENST00000378910.9:c.712+29_712+48del	ENSP00000368190.4:n.712+29_712+48del
NM_004646.3:c.712+29_712+48del , LRG_693t1:c.712+29_712+48del	NP_004637.1:n.712+29_712+48del
NM_004646.4:c.712+29_712+48del MANE Select	NP_004637.1:n.712+29_712+48del