×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243181_183243182insGTCGTATCA , CM000663.2:g.183243181_183243182insGTCGTATCA
GRCh38
NC_000001.10:g.183212316_183212317insGTCGTATCA , CM000663.1:g.183212316_183212317insGTCGTATCA
GRCh37
NC_000001.9:g.181478939_181478940insGTCGTATCA
NCBI36
NG_007079.2:g.61918_61919insGTCGTATCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000264144.5:c.3363_3364insGTCGTATCA
MANE Select
ENSP00000264144.4:p.Val1121_Leu1122insValValSer
ENST00000264144.4:c.3363_3364insGTCGTATCA
ENSP00000264144.4:p.Val1121_Leu1122insValValSer
NM_005562.2:c.3363_3364insGTCGTATCA
NP_005553.2:p.Val1121_Leu1122insValValSer
NM_005562.3:c.3363_3364insGTCGTATCA
MANE Select
NP_005553.2:p.Val1121_Leu1122insValValSer