Canonical Allele Identifier: CA2584603596

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35847836-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35847838_35847839del , CM000681.2:g.35847838_35847839del	GRCh38
NC_000019.9:g.36338740_36338741del , CM000681.1:g.36338740_36338741del	GRCh37
NC_000019.8:g.41030580_41030581del	NCBI36
NG_013356.2:g.26450_26451del , LRG_693:g.26450_26451del
NG_051206.1:g.1204_1205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1440+203_1440+204del MANE Select	ENSP00000368190.4:n.1440+203_1440+204del
ENST00000353632.6:c.1440+203_1440+204del	ENSP00000343634.5:n.1440+203_1440+204del
ENST00000378910.9:c.1440+203_1440+204del	ENSP00000368190.4:n.1440+203_1440+204del
NM_004646.3:c.1440+203_1440+204del , LRG_693t1:c.1440+203_1440+204del	NP_004637.1:n.1440+203_1440+204del
NM_004646.4:c.1440+203_1440+204del MANE Select	NP_004637.1:n.1440+203_1440+204del