Canonical Allele Identifier: CA2841522930
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849489dup , CM000681.2:g.35849489dup GRCh38
NC_000019.9:g.36340391dup , CM000681.1:g.36340391dup GRCh37
NC_000019.8:g.41032231dup NCBI36
NG_013356.2:g.24804dup , LRG_693:g.24804dup
NG_051206.1:g.2855dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.712+66dup MANE Select ENSP00000368190.4:n.712+66dup
ENST00000353632.6:c.712+66dup ENSP00000343634.5:n.712+66dup
ENST00000378910.9:c.712+66dup ENSP00000368190.4:n.712+66dup
NM_004646.3:c.712+66dup , LRG_693t1:c.712+66dup NP_004637.1:n.712+66dup
NM_004646.4:c.712+66dup MANE Select NP_004637.1:n.712+66dup
Search 100 bp 5'
Search 100 bp 3'