Canonical Allele Identifier: CA881819105

Gene: NPHS1

Linked Data

• dbSNP Id: rs1184591289
• gnomAD v3: 19-35847853-TCCTAG-T
• gnomAD v4: 19-35847853-TCCTAG-T
• MyVariant Identifiers: chr19:g.36338756_36338760del (hg19) ; chr19:g.35847854_35847858del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35847854_35847858del , CM000681.2:g.35847854_35847858del	GRCh38
NC_000019.9:g.36338756_36338760del , CM000681.1:g.36338756_36338760del	GRCh37
NC_000019.8:g.41030596_41030600del	NCBI36
NG_013356.2:g.26430_26434del , LRG_693:g.26430_26434del
NG_051206.1:g.1220_1224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1440+183_1440+187del MANE Select	ENSP00000368190.4:n.1440+183_1440+187del
ENST00000353632.6:c.1440+183_1440+187del	ENSP00000343634.5:n.1440+183_1440+187del
ENST00000378910.9:c.1440+183_1440+187del	ENSP00000368190.4:n.1440+183_1440+187del
NM_004646.3:c.1440+183_1440+187del , LRG_693t1:c.1440+183_1440+187del	NP_004637.1:n.1440+183_1440+187del
NM_004646.4:c.1440+183_1440+187del MANE Select	NP_004637.1:n.1440+183_1440+187del