Canonical Allele Identifier: CA1335319076

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545756_232545757delinsTG , CM000664.2:g.232545756_232545757delinsTG GRCh38
NC_000002.11:g.233410466_233410467delinsTG , CM000664.1:g.233410466_233410467delinsTG GRCh37
NC_000002.10:g.233118710_233118711delinsTG NCBI36
NG_012954.1:g.11030_11031delinsTG
NG_012954.2:g.11065_11066delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*2350_*2351delinsCA (TIGD1) MANE Select ENSP00000386186.3:n.*2350_*2351delinsCA
ENST00000651502.1:c.*40_*41delinsTG (CHRNG) MANE Select ENSP00000498757.1:n.*40_*41delinsTG
ENST00000389494.7:c.*40_*41delinsTG (CHRNG) ENSP00000374145.3:n.*40_*41delinsTG
NM_005199.4:c.*40_*41delinsTG (CHRNG) NP_005190.4:n.*40_*41delinsTG
NM_005199.5:c.*40_*41delinsTG (CHRNG) MANE Select NP_005190.4:n.*40_*41delinsTG
NM_145702.4:c.*2350_*2351delinsCA (TIGD1) MANE Select NP_663748.1:n.*2350_*2351delinsCA