Canonical Allele Identifier: CA2808297072

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4932909_4932910insAAAAACCAAACACACCCAACA , CM000679.2:g.4932909_4932910insAAAAACCAAACACACCCAACA GRCh38
NC_000017.10:g.4836204_4836205insAAAAACCAAACACACCCAACA , CM000679.1:g.4836204_4836205insAAAAACCAAACACACCCAACA GRCh37
NC_000017.9:g.4776984_4776985insAAAAACCAAACACACCCAACA NCBI36
NG_008767.2:g.5615_5616insAAAAACCAAACACACCCAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.305_306insAAAAACCAAACACACCCAACA (GP1BA) MANE Select ENSP00000329380.5:p.Ser101_His102insGlnLysThrLysHisThrGln
ENST00000649830.1:c.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTTTG (CHRNE) ENSP00000496907.1:n.-888+1434_-888+1435insTTGGGTGTGTTTGGTTTTT...
ENST00000329125.5:c.305_306insAAAAACCAAACACACCCAACA (GP1BA) ENSP00000329380.5:p.Ser101_His102insGlnLysThrLysHisThrGln
ENST00000611961.1:c.305_306insAAAAACCAAACACACCCAACA (GP1BA) ENSP00000484439.1:p.Ser101_His102insGlnLysThrLysHisThrGln
NM_000173.6:c.305_306insAAAAACCAAACACACCCAACA (GP1BA) NP_000164.5:p.Ser101_His102insGlnLysThrLysHisThrGln
NM_000173.7:c.305_306insAAAAACCAAACACACCCAACA (GP1BA) MANE Select NP_000164.5:p.Ser101_His102insGlnLysThrLysHisThrGln