Canonical Allele Identifier: CA2584603274

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35845907-C-CGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845907_35845908insGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA , CM000681.2:g.35845907_35845908insGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA	GRCh38
NC_000019.9:g.36336809_36336810insGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA , CM000681.1:g.36336809_36336810insGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA	GRCh37
NC_000019.8:g.41028649_41028650insGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAA	NCBI36
NG_013356.2:g.28380_28381insTTAACCCCATCCTGAAACTTGAAACTCCCGAC , LRG_693:g.28380_28381insTTAACCCCATCCTGAAACTTGAAACTCCCGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC MANE Select	ENSP00000368190.4:n.1627+100_1627+101insTTAACCCCATCCTGAAACTTG...
ENST00000353632.6:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC	ENSP00000343634.5:n.1627+100_1627+101insTTAACCCCATCCTGAAACTTG...
ENST00000378910.9:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC	ENSP00000368190.4:n.1627+100_1627+101insTTAACCCCATCCTGAAACTTG...
NM_004646.3:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC , LRG_693t1:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC	NP_004637.1:n.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTC...
NM_004646.4:c.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTCCCGAC MANE Select	NP_004637.1:n.1627+100_1627+101insTTAACCCCATCCTGAAACTTGAAACTC...