Canonical Allele Identifier: CA2594966641

Gene: NOD1

Linked Data

• gnomAD v3: 7-30452969-T-TAAAAA
• gnomAD v4: 7-30452969-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30452969_30452970insAAAAA , CM000669.2:g.30452969_30452970insAAAAA	GRCh38
NC_000007.13:g.30492585_30492586insAAAAA , CM000669.1:g.30492585_30492586insAAAAA	GRCh37
NC_000007.12:g.30459110_30459111insAAAAA	NCBI36
NG_013025.1:g.30808_30809insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222823.9:c.447_448insTTTTT MANE Select	ENSP00000222823.4:p.Lys150PhefsTer30
ENST00000222823.8:c.447_448insTTTTT	ENSP00000222823.4:p.Lys150PhefsTer30
ENST00000434755.5:c.447_448insTTTTT	ENSP00000416946.1:p.Lys150PhefsTer30
NM_006092.2:c.447_448insTTTTT	NP_006083.1:p.Lys150PhefsTer30
XM_005249568.1:c.447_448insTTTTT	XP_005249625.1:p.Lys150PhefsTer30
XM_005249572.1:c.447_448insTTTTT	XP_005249629.1:p.Lys150PhefsTer30
XM_006715633.2:c.447_448insTTTTT	XP_006715696.1:p.Lys150PhefsTer30
XM_011515079.1:c.447_448insTTTTT	XP_011513381.1:p.Lys150PhefsTer30
XM_011515080.1:c.447_448insTTTTT	XP_011513382.1:p.Lys150PhefsTer30
XM_011515081.1:c.447_448insTTTTT	XP_011513383.1:p.Lys150PhefsTer30
XM_011515082.1:c.447_448insTTTTT	XP_011513384.1:p.Lys150PhefsTer30
XM_011515083.1:c.447_448insTTTTT	XP_011513385.1:p.Lys150PhefsTer30
XM_011515084.1:c.447_448insTTTTT	XP_011513386.1:p.Lys150PhefsTer30
XM_011515085.1:c.447_448insTTTTT	XP_011513387.1:p.Lys150PhefsTer30
XM_011515086.1:c.447_448insTTTTT	XP_011513388.1:p.Lys150PhefsTer30
XM_011515087.1:c.447_448insTTTTT	XP_011513389.1:p.Lys150PhefsTer30
XM_011515088.1:c.447_448insTTTTT	XP_011513390.1:p.Lys150PhefsTer30
XR_926907.1:n.1025_1026insTTTTT
XR_926908.1:n.1025_1026insTTTTT
XR_926909.1:n.1025_1026insTTTTT
XR_926910.1:n.1025_1026insTTTTT
NM_001354849.1:c.447_448insTTTTT	NP_001341778.1:p.Lys150PhefsTer30
NM_006092.3:c.447_448insTTTTT	NP_006083.1:p.Lys150PhefsTer30
NR_149002.1:n.1059_1060insTTTTT
XM_011515080.2:c.447_448insTTTTT	XP_011513382.1:p.Lys150PhefsTer30
XM_011515081.2:c.447_448insTTTTT	XP_011513383.1:p.Lys150PhefsTer30
XM_011515088.2:c.447_448insTTTTT	XP_011513390.1:p.Lys150PhefsTer30
XM_017011674.1:c.447_448insTTTTT	XP_016867163.1:p.Lys150PhefsTer30
XR_001744529.1:n.1025_1026insTTTTT
XR_001744530.1:n.1025_1026insTTTTT
XR_002956406.1:n.973_974insTTTTT
XR_926908.2:n.1025_1026insTTTTT
XR_926909.2:n.1025_1026insTTTTT
NM_006092.4:c.447_448insTTTTT MANE Select	NP_006083.1:p.Lys150PhefsTer30
NM_001354849.2:c.447_448insTTTTT	NP_001341778.1:p.Lys150PhefsTer30
NR_149002.2:n.977_978insTTTTT