Canonical Allele Identifier: CA2169097

Linked Data

dbSNP Id: rs756261989

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545751_232545752insTGAGGCCGGGTG , CM000664.2:g.232545751_232545752insTGAGGCCGGGTG GRCh38
NC_000002.11:g.233410461_233410462insTGAGGCCGGGTG , CM000664.1:g.233410461_233410462insTGAGGCCGGGTG GRCh37
NC_000002.10:g.233118705_233118706insTGAGGCCGGGTG NCBI36
NG_012954.1:g.11025_11026insTGAGGCCGGGTG
NG_012954.2:g.11060_11061insTGAGGCCGGGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2355_*2356insCACCCGGCCTCA (TIGD1) MANE Select ENSP00000386186.3:n.*2355_*2356insCACCCGGCCTCA
ENST00000651502.1:c.*35_*36insTGAGGCCGGGTG (CHRNG) MANE Select ENSP00000498757.1:n.*35_*36insTGAGGCCGGGTG
ENST00000389494.7:c.*35_*36insTGAGGCCGGGTG (CHRNG) ENSP00000374145.3:n.*35_*36insTGAGGCCGGGTG
NM_005199.4:c.*35_*36insTGAGGCCGGGTG (CHRNG) NP_005190.4:n.*35_*36insTGAGGCCGGGTG
NM_005199.5:c.*35_*36insTGAGGCCGGGTG (CHRNG) MANE Select NP_005190.4:n.*35_*36insTGAGGCCGGGTG
NM_145702.4:c.*2355_*2356insCACCCGGCCTCA (TIGD1) MANE Select NP_663748.1:n.*2355_*2356insCACCCGGCCTCA