Canonical Allele Identifier: CA2695228629
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848075_35848077dup , CM000681.2:g.35848075_35848077dup GRCh38
NC_000019.9:g.36338977_36338979dup , CM000681.1:g.36338977_36338979dup GRCh37
NC_000019.8:g.41030817_41030819dup NCBI36
NG_013356.2:g.26211_26213dup , LRG_693:g.26211_26213dup
NG_051206.1:g.1441_1443dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1404_1406dup MANE Select ENSP00000368190.4:p.Gly469_Gly470insGly
ENST00000353632.6:c.1404_1406dup ENSP00000343634.5:p.Gly469_Gly470insGly
ENST00000378910.9:c.1404_1406dup ENSP00000368190.4:p.Gly469_Gly470insGly
ENST00000592132.1:n.411_413dup
NM_004646.3:c.1404_1406dup , LRG_693t1:c.1404_1406dup NP_004637.1:p.Gly469_Gly470insGly
NM_004646.4:c.1404_1406dup MANE Select NP_004637.1:p.Gly469_Gly470insGly
Search 100 bp 5'
Search 100 bp 3'