Canonical Allele Identifier: CA620304284
Gene: HBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1368471463
gnomAD v2: 16-226911-T-TC
gnomAD v4: 16-176912-T-TC
MyVariant Identifiers: chr16:g.226911_226912insC (hg19) chr16:g.176912_176913insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.176913dup , CM000678.2:g.176913dup GRCh38
NC_000016.9:g.226912dup , CM000678.1:g.226912dup GRCh37
NC_000016.8:g.166912dup NCBI36
NG_000006.1:g.37776dup
NG_059186.1:g.5263dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.96-16dup MANE Select ENSP00000322421.5:n.96-16dup
ENST00000397797.1:c.-1-16dup ENSP00000380899.1:n.-1-16dup
ENST00000472694.1:n.216dup
ENST00000487791.1:n.65-16dup
NM_000558.4:c.96-16dup NP_000549.1:n.96-16dup
NM_000558.5:c.96-16dup MANE Select NP_000549.1:n.96-16dup
Search 100 bp 5'
Search 100 bp 3'