Canonical Allele Identifier: CA2682357994

Gene: NPSR1 NPSR1-AS1

Linked Data

• gnomAD v4: 7-34778407-GAAAAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34778423_34778428del , CM000669.2:g.34778423_34778428del	GRCh38
NC_000007.13:g.34818035_34818040del , CM000669.1:g.34818035_34818040del	GRCh37
NC_000007.12:g.34784560_34784565del	NCBI36
NG_012185.1:g.125139_125144del
NG_021366.1:g.60919_60924del
NG_012185.2:g.125139_125144del
NG_021366.2:g.60919_60924del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360581.6:c.281-39_281-34del (NPSR1) MANE Select	ENSP00000353788.1:n.281-39_281-34del
ENST00000359791.5:c.281-39_281-34del (NPSR1)	ENSP00000352839.1:n.281-39_281-34del
ENST00000360581.5:c.281-39_281-34del (NPSR1)	ENSP00000353788.1:n.281-39_281-34del
ENST00000381539.3:c.281-39_281-34del (NPSR1)	ENSP00000370950.3:n.281-39_281-34del
ENST00000381542.5:c.281-48978_281-48973del (NPSR1)	ENSP00000370953.1:n.281-48978_281-48973de...
ENST00000381544.6:c.281-33347_281-33342del (NPSR1)	ENSP00000370955.2:n.281-33347_281-33342de...
ENST00000381553.7:c.281-39_281-34del (NPSR1)	ENSP00000370965.3:n.281-39_281-34del
ENST00000396095.6:c.281-39_281-34del (NPSR1)	ENSP00000379402.2:n.281-39_281-34del
ENST00000531252.5:c.281-72_281-67del (NPSR1)	ENSP00000433258.1:n.281-72_281-67del
NM_001300933.1:c.281-72_281-67del (NPSR1)	NP_001287862.1:n.281-72_281-67del
NM_001300934.1:c.281-48978_281-48973del (NPSR1)	NP_001287863.1:n.281-48978_281-48973del
NM_001300935.1:c.281-39_281-34del (NPSR1)	NP_001287864.1:n.281-39_281-34del
NM_207172.1:c.281-39_281-34del (NPSR1)	NP_997055.1:n.281-39_281-34del
NM_207173.1:c.281-39_281-34del (NPSR1)	NP_997056.1:n.281-39_281-34del
NR_015356.2:n.172-9973_172-9968del (NPSR1-AS1)
NM_001300933.2:c.281-72_281-67del (NPSR1)	NP_001287862.1:n.281-72_281-67del
NM_207172.2:c.281-39_281-34del (NPSR1) MANE Select	NP_997055.1:n.281-39_281-34del
NM_207173.2:c.281-39_281-34del (NPSR1)	NP_997056.1:n.281-39_281-34del
NM_001300934.2:c.281-48978_281-48973del (NPSR1)	NP_001287863.1:n.281-48978_281-48973del
NM_001300935.2:c.281-39_281-34del (NPSR1)	NP_001287864.1:n.281-39_281-34del