Canonical Allele Identifier: CA645619649
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM4567438
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849361_35849362delinsAA , CM000681.2:g.35849361_35849362delinsAA GRCh38
NC_000019.9:g.36340263_36340264delinsAA , CM000681.1:g.36340263_36340264delinsAA GRCh37
NC_000019.8:g.41032103_41032104delinsAA NCBI36
NG_013356.2:g.24926_24927delinsTT , LRG_693:g.24926_24927delinsTT
NG_051206.1:g.2727_2728delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.714_715delinsTT MANE Select ENSP00000368190.4:p.Pro239Ser
ENST00000353632.6:c.714_715delinsTT ENSP00000343634.5:p.Pro239Ser
ENST00000378910.9:c.714_715delinsTT ENSP00000368190.4:p.Pro239Ser
NM_004646.3:c.714_715delinsTT , LRG_693t1:c.714_715delinsTT NP_004637.1:p.Pro239Ser
NM_004646.4:c.714_715delinsTT MANE Select NP_004637.1:p.Pro239Ser
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