Canonical Allele Identifier: CA809921636

Gene: NPR3

Linked Data

• dbSNP Id: rs1241033112
• gnomAD v3: 5-32742266-TAGGAATAGTGAC-T
• gnomAD v4: 5-32742266-TAGGAATAGTGAC-T
• MyVariant Identifiers: chr5:g.32742373_32742384del (hg19) ; chr5:g.32742267_32742278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32742269_32742280del , CM000667.2:g.32742269_32742280del	GRCh38
NC_000005.9:g.32742375_32742386del , CM000667.1:g.32742375_32742386del	GRCh37
NC_000005.8:g.32778132_32778143del	NCBI36
NG_028162.1:g.36633_36644del
NG_028162.2:g.58194_58205del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265074.13:c.1059+3239_1059+3250del MANE Select	ENSP00000265074.8:n.1059+3239_1059+3250de...
ENST00000265074.12:c.1059+3239_1059+3250del	ENSP00000265074.8:n.1059+3239_1059+3250de...
ENST00000326958.5:c.411+3239_411+3250del	ENSP00000318340.2:n.411+3239_411+3250del
ENST00000415167.2:c.1059+3239_1059+3250del	ENSP00000398028.2:n.1059+3239_1059+3250de...
ENST00000434067.6:c.411+3239_411+3250del	ENSP00000388408.2:n.411+3239_411+3250del
ENST00000506712.1:n.420+3239_420+3250del
ENST00000509104.5:c.390+3239_390+3250del	ENSP00000425325.1:n.390+3239_390+3250del
NM_000908.3:c.1059+3239_1059+3250del	NP_000899.1:n.1059+3239_1059+3250del
NM_001204375.1:c.1059+3239_1059+3250del	NP_001191304.1:n.1059+3239_1059+3250del
NM_001204376.1:c.411+3239_411+3250del	NP_001191305.1:n.411+3239_411+3250del
XM_005248309.1:c.411+3239_411+3250del	XP_005248366.1:n.411+3239_411+3250del
XM_011514047.1:c.390+3239_390+3250del	XP_011512349.1:n.390+3239_390+3250del
XM_011514048.1:c.339+3239_339+3250del	XP_011512350.1:n.339+3239_339+3250del
XM_011514049.1:c.282+3239_282+3250del	XP_011512351.1:n.282+3239_282+3250del
NM_001363652.1:c.411+3239_411+3250del	NP_001350581.1:n.411+3239_411+3250del
NM_001364458.1:c.339+3239_339+3250del	NP_001351387.1:n.339+3239_339+3250del
NM_001364460.1:c.288+3239_288+3250del	NP_001351389.1:n.288+3239_288+3250del
XM_011514047.2:c.390+3239_390+3250del	XP_011512349.1:n.390+3239_390+3250del
XM_011514049.3:c.282+3239_282+3250del	XP_011512351.1:n.282+3239_282+3250del
XM_017009492.2:c.936+3239_936+3250del	XP_016864981.1:n.936+3239_936+3250del
NM_001204375.2:c.1059+3239_1059+3250del MANE Select	NP_001191304.1:n.1059+3239_1059+3250del
NM_000908.4:c.1059+3239_1059+3250del	NP_000899.1:n.1059+3239_1059+3250del
NM_001363652.2:c.411+3239_411+3250del	NP_001350581.1:n.411+3239_411+3250del
NM_001364458.2:c.339+3239_339+3250del	NP_001351387.1:n.339+3239_339+3250del
NM_001364460.2:c.288+3239_288+3250del	NP_001351389.1:n.288+3239_288+3250del
NM_001204376.2:c.411+3239_411+3250del	NP_001191305.1:n.411+3239_411+3250del