Canonical Allele Identifier: CA214413069

Gene:

Linked Data

• dbSNP Id: rs60243044
• gnomAD v2: 10-124217902-A-AAGAG
• gnomAD v3: 10-122458386-A-AAGAG
• gnomAD v4: 10-122458386-A-AAGAG
• MyVariant Identifiers: chr10:g.124217902_124217903insAGAG (hg19) ; chr10:g.122458386_122458387insAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122458389_122458390insGAGA , CM000672.2:g.122458389_122458390insGAGA	GRCh38
NC_000010.10:g.124217905_124217906insGAGA , CM000672.1:g.124217905_124217906insGAGA	GRCh37
NC_000010.9:g.124207895_124207896insGAGA	NCBI36
NG_011554.1:g.1865_1866insGAGA
NG_011725.1:g.8727_8728insGAGA

Transcript Alleles

HGVS	Amino-acid Change
XR_946382.1:n.1827+108_1827+109insCTCT
XR_946383.1:n.1827+108_1827+109insCTCT
XR_946384.1:n.1576+108_1576+109insCTCT
XR_946385.1:n.1827+108_1827+109insCTCT
XR_946382.2:n.1855+108_1855+109insCTCT
XR_946383.2:n.1855+108_1855+109insCTCT
XR_946384.2:n.1580+108_1580+109insCTCT
XR_946385.2:n.1855+108_1855+109insCTCT