Canonical Allele Identifier: CA591310934

Gene: ABO

Linked Data

• dbSNP Id: rs1554760401
• gnomAD v2: 9-136149533-C-CTTTTTTTTTTT
• gnomAD v3: 9-133274117-C-CTTTTTTTTTTT
• gnomAD v4: 9-133274117-C-CTTTTTTTTTTT
• MyVariant Identifiers: chr9:g.136149533_136149534insTTTTTTTTTTT (hg19) ; chr9:g.133274117_133274118insTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274117_133274118insTTTTTTTTTTT , CM000671.2:g.133274117_133274118insTTTTTTTTTTT	GRCh38
NC_000009.11:g.136149533_136149534insTTTTTTTTTTT , CM000671.1:g.136149533_136149534insTTTTTTTTTTT	GRCh37
NC_000009.10:g.135139354_135139355insTTTTTTTTTTT	NCBI36
NG_006669.1:g.3517_3518insAAAAAAAAAAA
NG_006669.2:g.6097_6098insAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.58+1044_58+1045insAAAAAAAAAAA
ENST00000647353.1:n.53+1044_53+1045insAAAAAAAAAAA
ENST00000651471.1:n.63+1844_63+1845insAAAAAAAAAAA
ENST00000679909.1:c.28+1044_28+1045insAAAAAAAAAAA	ENSP00000506089.1:n.28+1044_28+1045insAAA...
ENST00000453660.3:n.40+1044_40+1045insAAAAAAAAAAA
ENST00000538324.2:c.28+1044_28+1045insAAAAAAAAAAA	ENSP00000483018.1:n.28+1044_28+1045insAAA...
ENST00000611156.4:c.28+1044_28+1045insAAAAAAAAAAA	ENSP00000483265.1:n.28+1044_28+1045insAAA...
NM_020469.2:c.28+1044_28+1045insAAAAAAAAAAA	NP_065202.2:n.28+1044_28+1045insAAAAAAAAA...
NM_020469.3:c.28+1044_28+1045insAAAAAAAAAAA	NP_065202.2:n.28+1044_28+1045insAAAAAAAAA...