Canonical Allele Identifier: CA1335319360

Linked Data

dbSNP Id: rs1553578776

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546307_232546308insGT , CM000664.2:g.232546307_232546308insGT GRCh38
NC_000002.11:g.233411017_233411018insGT , CM000664.1:g.233411017_233411018insGT GRCh37
NC_000002.10:g.233119261_233119262insGT NCBI36
NG_012954.1:g.11581_11582insGT
NG_012954.2:g.11616_11617insGT

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*1800_*1801insCA (TIGD1) MANE Select ENSP00000386186.3:n.*1800_*1801insCA
ENST00000651502.1:c.*591_*592insGT (CHRNG) MANE Select ENSP00000498757.1:n.*591_*592insGT
ENST00000389494.7:c.*591_*592insGT (CHRNG) ENSP00000374145.3:n.*591_*592insGT
NM_005199.4:c.*591_*592insGT (CHRNG) NP_005190.4:n.*591_*592insGT
NM_005199.5:c.*591_*592insGT (CHRNG) MANE Select NP_005190.4:n.*591_*592insGT
NM_145702.4:c.*1800_*1801insCA (TIGD1) MANE Select NP_663748.1:n.*1800_*1801insCA