Canonical Allele Identifier: CA2333847416
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842245_35842246delinsTA , CM000681.2:g.35842245_35842246delinsTA GRCh38
NC_000019.9:g.36333147_36333148delinsTA , CM000681.1:g.36333147_36333148delinsTA GRCh37
NC_000019.8:g.41024987_41024988delinsTA NCBI36
NG_013356.2:g.32042_32043delinsTA , LRG_693:g.32042_32043delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2541_2542delinsTA MANE Select ENSP00000368190.4:p.Thr847=
ENST00000353632.6:c.2541_2542delinsTA ENSP00000343634.5:p.Thr847=
ENST00000378910.9:c.2541_2542delinsTA ENSP00000368190.4:p.Thr847=
NM_004646.3:c.2541_2542delinsTA , LRG_693t1:c.2541_2542delinsTA NP_004637.1:p.Thr847=
NM_004646.4:c.2541_2542delinsTA MANE Select NP_004637.1:p.Thr847=
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