Canonical Allele Identifier: CA4205020

Gene: NOD1

Linked Data

• dbSNP Id: rs746983354
• ExAC: 7:30491820 G / GGAAGTGCTGGAAGCACC
• gnomAD v2: 7-30491820-G-GGAAGTGCTGGAAGCACC
• gnomAD v4: 7-30452204-G-GGAAGTGCTGGAAGCACC
• MyVariant Identifiers: chr7:g.30491820_30491821insGAAGTGCTGGAAGCACC (hg19) ; chr7:g.30452204_30452205insGAAGTGCTGGAAGCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30452206_30452222dup , CM000669.2:g.30452206_30452222dup	GRCh38
NC_000007.13:g.30491822_30491838dup , CM000669.1:g.30491822_30491838dup	GRCh37
NC_000007.12:g.30458347_30458363dup	NCBI36
NG_013025.1:g.31557_31573dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222823.9:c.1196_1212dup MANE Select	ENSP00000222823.4:p.Arg405GlyfsTer21
ENST00000222823.8:c.1196_1212dup	ENSP00000222823.4:p.Arg405GlyfsTer21
ENST00000434755.5:c.1196_1212dup	ENSP00000416946.1:p.Arg405GlyfsTer21
NM_006092.2:c.1196_1212dup	NP_006083.1:p.Arg405GlyfsTer21
XM_005249568.1:c.1196_1212dup	XP_005249625.1:p.Arg405GlyfsTer21
XM_005249572.1:c.1196_1212dup	XP_005249629.1:p.Arg405GlyfsTer21
XM_005249576.1:c.452_468dup	XP_005249633.1:p.Arg157GlyfsTer21
XM_006715633.2:c.1196_1212dup	XP_006715696.1:p.Arg405GlyfsTer21
XM_011515079.1:c.1196_1212dup	XP_011513381.1:p.Arg405GlyfsTer21
XM_011515080.1:c.1196_1212dup	XP_011513382.1:p.Arg405GlyfsTer21
XM_011515081.1:c.1196_1212dup	XP_011513383.1:p.Arg405GlyfsTer21
XM_011515082.1:c.1196_1212dup	XP_011513384.1:p.Arg405GlyfsTer21
XM_011515083.1:c.1196_1212dup	XP_011513385.1:p.Arg405GlyfsTer21
XM_011515084.1:c.1196_1212dup	XP_011513386.1:p.Arg405GlyfsTer21
XM_011515085.1:c.1196_1212dup	XP_011513387.1:p.Arg405GlyfsTer21
XM_011515086.1:c.1196_1212dup	XP_011513388.1:p.Arg405GlyfsTer21
XM_011515087.1:c.1196_1212dup	XP_011513389.1:p.Arg405GlyfsTer21
XM_011515088.1:c.1196_1212dup	XP_011513390.1:p.Arg405GlyfsTer21
XR_926907.1:n.1774_1790dup
XR_926908.1:n.1774_1790dup
XR_926909.1:n.1774_1790dup
XR_926910.1:n.1774_1790dup
NM_001354849.1:c.1196_1212dup	NP_001341778.1:p.Arg405GlyfsTer21
NM_006092.3:c.1196_1212dup	NP_006083.1:p.Arg405GlyfsTer21
NR_149002.1:n.1808_1824dup
XM_011515080.2:c.1196_1212dup	XP_011513382.1:p.Arg405GlyfsTer21
XM_011515081.2:c.1196_1212dup	XP_011513383.1:p.Arg405GlyfsTer21
XM_011515088.2:c.1196_1212dup	XP_011513390.1:p.Arg405GlyfsTer21
XM_017011674.1:c.1196_1212dup	XP_016867163.1:p.Arg405GlyfsTer21
XR_001744529.1:n.1774_1790dup
XR_001744530.1:n.1774_1790dup
XR_002956406.1:n.1722_1738dup
XR_926908.2:n.1774_1790dup
XR_926909.2:n.1774_1790dup
NM_006092.4:c.1196_1212dup MANE Select	NP_006083.1:p.Arg405GlyfsTer21
NM_001354849.2:c.1196_1212dup	NP_001341778.1:p.Arg405GlyfsTer21
NR_149002.2:n.1726_1742dup