Canonical Allele Identifier: CA2333850858
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849346_35849348delinsCAG , CM000681.2:g.35849346_35849348delinsCAG GRCh38
NC_000019.9:g.36340248_36340250delinsCAG , CM000681.1:g.36340248_36340250delinsCAG GRCh37
NC_000019.8:g.41032088_41032090delinsCAG NCBI36
NG_013356.2:g.24940_24942delinsCTG , LRG_693:g.24940_24942delinsCTG
NG_051206.1:g.2712_2714delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.728_730delinsCTG MANE Select ENSP00000368190.4:p.Pro243=
ENST00000353632.6:c.728_730delinsCTG ENSP00000343634.5:p.Pro243=
ENST00000378910.9:c.728_730delinsCTG ENSP00000368190.4:p.Pro243=
NM_004646.3:c.728_730delinsCTG , LRG_693t1:c.728_730delinsCTG NP_004637.1:p.Pro243=
NM_004646.4:c.728_730delinsCTG MANE Select NP_004637.1:p.Pro243=
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