Canonical Allele Identifier: CA2584604388

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35850956-CTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850957_35851031del , CM000681.2:g.35850957_35851031del	GRCh38
NC_000019.9:g.36341859_36341933del , CM000681.1:g.36341859_36341933del	GRCh37
NC_000019.8:g.41033699_41033773del	NCBI36
NG_013356.2:g.23257_23331del , LRG_693:g.23257_23331del
NG_051206.1:g.4323_4397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.456_526+4del
ENST00000353632.6:c.456_526+4del
ENST00000378910.9:c.456_526+4del
NM_004646.3:c.456_526+4del , LRG_693t1:c.456_526+4del
NM_004646.4:c.456_526+4del