Canonical Allele Identifier: CA2333850411

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848013_35848016delinsACCC , CM000681.2:g.35848013_35848016delinsACCC	GRCh38
NC_000019.9:g.36338915_36338918delinsACCC , CM000681.1:g.36338915_36338918delinsACCC	GRCh37
NC_000019.8:g.41030755_41030758delinsACCC	NCBI36
NG_013356.2:g.26272_26275delinsGGGT , LRG_693:g.26272_26275delinsGGGT
NG_051206.1:g.1379_1382delinsACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1440+25_1440+28delinsGGGT MANE Select	ENSP00000368190.4:n.1440+25_1440+28delinsGGGT
ENST00000353632.6:c.1440+25_1440+28delinsGGGT	ENSP00000343634.5:n.1440+25_1440+28delinsGGGT
ENST00000378910.9:c.1440+25_1440+28delinsGGGT	ENSP00000368190.4:n.1440+25_1440+28delinsGGGT
ENST00000592132.1:n.472_475delinsGGGT
NM_004646.3:c.1440+25_1440+28delinsGGGT , LRG_693t1:c.1440+25_1440+28delinsGGGT	NP_004637.1:n.1440+25_1440+28delinsGGGT
NM_004646.4:c.1440+25_1440+28delinsGGGT MANE Select	NP_004637.1:n.1440+25_1440+28delinsGGGT