Canonical Allele Identifier: CA590176104
Gene:

Linked Data

dbSNP Id: rs1279212377
gnomAD v2: 9-120558938-C-CT
gnomAD v3: 9-117796660-C-CT
gnomAD v4: 9-117796660-C-CT
MyVariant Identifiers: chr9:g.120558938_120558939insT (hg19) chr9:g.117796660_117796661insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117796661dup , CM000671.2:g.117796661dup GRCh38
NC_000009.11:g.120558939dup , CM000671.1:g.120558939dup GRCh37
NC_000009.10:g.119598760dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.94-51404dup ENSP00000496197.1:n.94-51404dup
ENST00000697624.1:n.201-51404dup
ENST00000697636.1:c.94-51404dup ENSP00000513366.1:n.94-51404dup
ENST00000697637.1:c.94-51404dup ENSP00000513367.1:n.94-51404dup
ENST00000697664.1:c.*86+29411dup ENSP00000513389.1:n.*86+29411dup
ENST00000697665.1:c.94-51404dup ENSP00000513390.1:n.94-51404dup
ENST00000697666.1:c.141-51404dup ENSP00000513391.1:n.141-51404dup
ENST00000642985.1:c.261-51404dup ENSP00000493686.1:n.261-51404dup
ENST00000646089.1:c.94-51404dup ENSP00000496197.1:n.94-51404dup
ENST00000665764.1:c.94-51404dup ENSP00000499745.1:n.94-51404dup
XR_930289.1:n.1628-6320dup
XR_001746915.1:n.2244-6320dup
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