Canonical Allele Identifier: CA2584604359

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35850905-C-CTTGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850907_35850908insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT , CM000681.2:g.35850907_35850908insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT	GRCh38
NC_000019.9:g.36341809_36341810insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT , CM000681.1:g.36341809_36341810insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT	GRCh37
NC_000019.8:g.41033649_41033650insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT	NCBI36
NG_013356.2:g.23382_23383insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA , LRG_693:g.23382_23383insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA
NG_051206.1:g.4273_4274insGGGGCCTTTGCGTAGTTGTATATAGCCTAGAAATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA MANE Select	ENSP00000368190.4:n.526+55_526+56insAATTTCTAGGCTATATACAACTACG...
ENST00000353632.6:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA	ENSP00000343634.5:n.526+55_526+56insAATTTCTAGGCTATATACAACTACG...
ENST00000378910.9:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA	ENSP00000368190.4:n.526+55_526+56insAATTTCTAGGCTATATACAACTACG...
NM_004646.3:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA , LRG_693t1:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA	NP_004637.1:n.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGG...
NM_004646.4:c.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGGCCCCAA MANE Select	NP_004637.1:n.526+55_526+56insAATTTCTAGGCTATATACAACTACGCAAAGG...