Canonical Allele Identifier: CA727650453

Gene: NOS2

Linked Data

• dbSNP Id: rs1336203352
• gnomAD v3: 17-27783899-AGCCTGGTCAAGCCAGGACTGGGACCTGGCTATC-A
• gnomAD v4: 17-27783899-AGCCTGGTCAAGCCAGGACTGGGACCTGGCTATC-A
• MyVariant Identifiers: chr17:g.26110926_26110958del (hg19) ; chr17:g.27783900_27783932del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.27783901_27783933del , CM000679.2:g.27783901_27783933del	GRCh38
NC_000017.10:g.26110927_26110959del , CM000679.1:g.26110927_26110959del	GRCh37
NC_000017.9:g.23135054_23135086del	NCBI36
NG_011470.1:g.21598_21630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697337.1:c.319-826_319-794del	ENSP00000513259.1:n.319-826_319-794del
ENST00000697338.1:c.316-826_316-794del	ENSP00000513260.1:n.316-826_316-794del
ENST00000697339.1:c.315+4877_315+4909del	ENSP00000513261.1:n.315+4877_315+4909del
ENST00000697340.1:c.465-826_465-794del	ENSP00000513262.1:n.465-826_465-794del
ENST00000697341.1:n.438-826_438-794del
ENST00000313735.11:c.468-826_468-794del MANE Select	ENSP00000327251.6:n.468-826_468-794del
ENST00000646938.1:c.465-826_465-794del	ENSP00000494870.1:n.465-826_465-794del
ENST00000313735.10:c.468-826_468-794del	ENSP00000327251.6:n.468-826_468-794del
ENST00000621962.1:c.468-826_468-794del	ENSP00000482291.1:n.468-826_468-794del
NM_000625.4:c.468-826_468-794del MANE Select	NP_000616.3:n.468-826_468-794del
XM_011524859.1:c.468-826_468-794del	XP_011523161.1:n.468-826_468-794del
XM_011524860.1:c.465-826_465-794del	XP_011523162.1:n.465-826_465-794del
XM_011524861.1:c.468-826_468-794del	XP_011523163.1:n.468-826_468-794del
XM_011524862.1:c.-199-826_-199-794del	XP_011523164.1:n.-199-826_-199-794del