Canonical Allele Identifier: CA913015892
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36340168dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849266dup , CM000681.2:g.35849266dup GRCh38
NC_000019.9:g.36340168dup , CM000681.1:g.36340168dup GRCh37
NC_000019.8:g.41032008dup NCBI36
NG_013356.2:g.25022dup , LRG_693:g.25022dup
NG_051206.1:g.2632dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.810dup MANE Select ENSP00000368190.4:p.Asn271Ter
ENST00000353632.6:c.810dup ENSP00000343634.5:p.Asn271Ter
ENST00000378910.9:c.810dup ENSP00000368190.4:p.Asn271Ter
NM_004646.3:c.810dup , LRG_693t1:c.810dup NP_004637.1:p.Asn271Ter
NM_004646.4:c.810dup MANE Select NP_004637.1:p.Asn271Ter