Canonical Allele Identifier: CA1129724799
Gene: ABO HGNC NCBI

Linked Data

gnomAD v3: 9-133274125-G-GTTTTTT
gnomAD v4: 9-133274125-G-GTTTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133274125_133274126insTTTTTT , CM000671.2:g.133274125_133274126insTTTTTT GRCh38
NC_000009.11:g.136149541_136149542insTTTTTT , CM000671.1:g.136149541_136149542insTTTTTT GRCh37
NC_000009.10:g.135139362_135139363insTTTTTT NCBI36
NG_006669.1:g.3509_3510insAAAAAA
NG_006669.2:g.6089_6090insAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.58+1036_58+1037insAAAAAA
ENST00000647353.1:n.53+1036_53+1037insAAAAAA
ENST00000651471.1:n.63+1836_63+1837insAAAAAA
ENST00000679909.1:c.28+1036_28+1037insAAAAAA ENSP00000506089.1:n.28+1036_28+1037insAAAAAA
ENST00000453660.3:n.40+1036_40+1037insAAAAAA
ENST00000538324.2:c.28+1036_28+1037insAAAAAA ENSP00000483018.1:n.28+1036_28+1037insAAAAAA
ENST00000611156.4:c.28+1036_28+1037insAAAAAA ENSP00000483265.1:n.28+1036_28+1037insAAAAAA
NM_020469.2:c.28+1036_28+1037insAAAAAA NP_065202.2:n.28+1036_28+1037insAAAAAA
NM_020469.3:c.28+1036_28+1037insAAAAAA NP_065202.2:n.28+1036_28+1037insAAAAAA
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