Canonical Allele Identifier: CA198780941

Gene:

Linked Data

• dbSNP Id: rs920522139
• MyVariant Identifiers: chr9:g.120558860_120558861insTAGAGTAAA (hg19) ; chr9:g.117796582_117796583insTAGAGTAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117796583_117796584insAGAGTAAAT , CM000671.2:g.117796583_117796584insAGAGTAAAT	GRCh38
NC_000009.11:g.120558861_120558862insAGAGTAAAT , CM000671.1:g.120558861_120558862insAGAGTAAAT	GRCh37
NC_000009.10:g.119598682_119598683insAGAGTAAAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.94-51482_94-51481insAGAGTAAAT	ENSP00000496197.1:n.94-51482_94-51481insAGAGTAAAT
ENST00000697624.1:n.201-51482_201-51481insAGAGTAAAT
ENST00000697636.1:c.94-51482_94-51481insAGAGTAAAT	ENSP00000513366.1:n.94-51482_94-51481insAGAGTAAAT
ENST00000697637.1:c.94-51482_94-51481insAGAGTAAAT	ENSP00000513367.1:n.94-51482_94-51481insAGAGTAAAT
ENST00000697664.1:c.*86+29333_*86+29334insAGAGTAAAT	ENSP00000513389.1:n.*86+29333_*86+29334insAGAGTAAAT
ENST00000697665.1:c.94-51482_94-51481insAGAGTAAAT	ENSP00000513390.1:n.94-51482_94-51481insAGAGTAAAT
ENST00000697666.1:c.141-51482_141-51481insAGAGTAAAT	ENSP00000513391.1:n.141-51482_141-51481insAGAGTAAAT
ENST00000642985.1:c.261-51482_261-51481insAGAGTAAAT	ENSP00000493686.1:n.261-51482_261-51481insAGAGTAAAT
ENST00000646089.1:c.94-51482_94-51481insAGAGTAAAT	ENSP00000496197.1:n.94-51482_94-51481insAGAGTAAAT
ENST00000665764.1:c.94-51482_94-51481insAGAGTAAAT	ENSP00000499745.1:n.94-51482_94-51481insAGAGTAAAT
XR_930289.1:n.1628-6398_1628-6397insAGAGTAAAT
XR_001746915.1:n.2244-6398_2244-6397insAGAGTAAAT