Canonical Allele Identifier: CA250078

Gene: NPHS1 KIRREL2

Linked Data

• ClinVar Variation Id: 56416
• ClinVar RCV Id: RCV000049829
• dbSNP Id: rs139954720
• gnomAD v2: 19-36343206-GTCTCTCTC-G
• gnomAD v3: 19-35852304-GTCTCTCTC-G
• gnomAD v4: 19-35852304-GTCTCTCTC-G
• MyVariant Identifiers: chr19:g.36343207_36343214del (hg19) ; chr19:g.35852305_35852312del (hg38)
• PubMed: PMID:9915943

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35852319_35852326del , CM000681.2:g.35852319_35852326del	GRCh38
NC_000019.9:g.36343221_36343228del , CM000681.1:g.36343221_36343228del	GRCh37
NC_000019.8:g.41035061_41035068del	NCBI36
NG_013356.2:g.21976_21983del , LRG_693:g.21976_21983del
NG_051206.1:g.5685_5692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.-475_-468del (NPHS1) MANE Select	ENSP00000368190.4:n.-475_-468del
ENST00000591817.1:n.560-640_560-633del (NPHS1)
XM_011527362.1:c.-184+596_-184+603del (KIRREL2)	XP_011525664.1:n.-184+596_-184+603del
XM_011527363.1:c.-175+596_-175+603del (KIRREL2)	XP_011525665.1:n.-175+596_-175+603del
XM_011527364.1:c.-184+596_-184+603del (KIRREL2)	XP_011525666.1:n.-184+596_-184+603del
XM_011527365.1:c.-184+596_-184+603del (KIRREL2)	XP_011525667.1:n.-184+596_-184+603del
NM_004646.4:c.-475_-468del (NPHS1) MANE Select	NP_004637.1:n.-475_-468del