Canonical Allele Identifier: CA2584602142

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35841919-CTTGGAATCATCTATGCATCCATCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35841922_35841946del , CM000681.2:g.35841922_35841946del	GRCh38
NC_000019.9:g.36332824_36332848del , CM000681.1:g.36332824_36332848del	GRCh37
NC_000019.8:g.41024664_41024688del	NCBI36
NG_013356.2:g.32344_32368del , LRG_693:g.32344_32368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2664-78_2664-54del MANE Select	ENSP00000368190.4:n.2664-78_2664-54del
ENST00000353632.6:c.2664-78_2664-54del	ENSP00000343634.5:n.2664-78_2664-54del
ENST00000378910.9:c.2664-78_2664-54del	ENSP00000368190.4:n.2664-78_2664-54del
NM_004646.3:c.2664-78_2664-54del , LRG_693t1:c.2664-78_2664-54del	NP_004637.1:n.2664-78_2664-54del
NM_004646.4:c.2664-78_2664-54del MANE Select	NP_004637.1:n.2664-78_2664-54del