Canonical Allele Identifier: CA2580099061

Gene: ADA2

Linked Data

• ClinVar Variation Id: 2068493
• ClinVar RCV Id: RCV002954302

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.17181808_17181809delinsTG , CM000684.2:g.17181808_17181809delinsTG	GRCh38
NC_000022.10:g.17662698_17662699delinsTG , CM000684.1:g.17662698_17662699delinsTG	GRCh37
NC_000022.9:g.16042698_16042699delinsTG	NCBI36
NG_033943.1:g.45046_45047delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330232.9:c.719+11_719+12delinsCA	ENSP00000332871.4:n.719+11_719+12delinsCA
ENST00000449907.8:c.1316+11_1316+12delinsCA	ENSP00000406443.2:n.1316+11_1316+12delinsCA
ENST00000469063.2:n.1330+11_1330+12delinsCA
ENST00000543038.2:c.1442+11_1442+12delinsCA	ENSP00000442482.2:n.1442+11_1442+12delinsCA
ENST00000610390.5:c.1082+11_1082+12delinsCA	ENSP00000483418.1:n.1082+11_1082+12delinsCA
ENST00000648061.2:c.*418+11_*418+12delinsCA	ENSP00000496894.1:n.*418+11_*418+12delinsCA
ENST00000649310.2:c.1442+11_1442+12delinsCA	ENSP00000496839.2:n.1442+11_1442+12delinsCA
ENST00000649746.2:c.1442+11_1442+12delinsCA	ENSP00000497913.2:n.1442+11_1442+12delinsCA
ENST00000649915.2:c.*2564+11_*2564+12delinsCA	ENSP00000497681.2:n.*2564+11_*2564+12delinsCA
ENST00000696196.1:c.1442+11_1442+12delinsCA	ENSP00000512479.1:n.1442+11_1442+12delinsCA
ENST00000696197.1:c.1442+11_1442+12delinsCA	ENSP00000512480.1:n.1442+11_1442+12delinsCA
ENST00000696218.1:n.554+11_554+12delinsCA
ENST00000696220.1:c.668+11_668+12delinsCA	ENSP00000512486.1:n.668+11_668+12delinsCA
ENST00000696221.1:c.689+11_689+12delinsCA	ENSP00000512487.1:n.689+11_689+12delinsCA
ENST00000696222.1:c.689+11_689+12delinsCA	ENSP00000512488.1:n.689+11_689+12delinsCA
ENST00000696223.1:c.689+11_689+12delinsCA	ENSP00000512489.1:n.689+11_689+12delinsCA
ENST00000696224.1:c.836+11_836+12delinsCA	ENSP00000512490.1:n.836+11_836+12delinsCA
ENST00000696225.1:c.1442+11_1442+12delinsCA	ENSP00000512491.1:n.1442+11_1442+12delinsCA
ENST00000399837.8:c.1442+11_1442+12delinsCA MANE Select	ENSP00000382731.2:n.1442+11_1442+12delinsCA
ENST00000449907.7:c.1316+11_1316+12delinsCA	ENSP00000406443.2:n.1316+11_1316+12delinsCA
ENST00000648061.1:c.*418+11_*418+12delinsCA	ENSP00000496894.1:n.*418+11_*418+12delinsCA
ENST00000648668.1:n.880+11_880+12delinsCA
ENST00000649540.1:c.1316+11_1316+12delinsCA	ENSP00000497469.1:n.1316+11_1316+12delinsCA
ENST00000649915.1:c.2955+11_2955+12delinsCA
ENST00000262607.3:c.1442+11_1442+12delinsCA	ENSP00000262607.2:n.1442+11_1442+12delinsCA
ENST00000330232.8:c.719+11_719+12delinsCA	ENSP00000332871.4:n.719+11_719+12delinsCA
ENST00000399837.6:c.1442+11_1442+12delinsCA	ENSP00000382731.2:n.1442+11_1442+12delinsCA
ENST00000399839.5:c.1442+11_1442+12delinsCA	ENSP00000382733.1:n.1442+11_1442+12delinsCA
ENST00000449907.6:c.1316+11_1316+12delinsCA	ENSP00000406443.2:n.1316+11_1316+12delinsCA
ENST00000610390.4:c.1082+11_1082+12delinsCA	ENSP00000483418.1:n.1082+11_1082+12delinsCA
NM_001282225.1:c.1442+11_1442+12delinsCA	NP_001269154.1:n.1442+11_1442+12delinsCA
NM_001282226.1:c.1442+11_1442+12delinsCA	NP_001269155.1:n.1442+11_1442+12delinsCA
NM_001282227.1:c.1316+11_1316+12delinsCA	NP_001269156.1:n.1316+11_1316+12delinsCA
NM_001282228.1:c.1316+11_1316+12delinsCA	NP_001269157.1:n.1316+11_1316+12delinsCA
NM_001282229.1:c.1082+11_1082+12delinsCA	NP_001269158.1:n.1082+11_1082+12delinsCA
NM_177405.2:c.719+11_719+12delinsCA	NP_803124.1:n.719+11_719+12delinsCA
XM_006724080.2:c.758+11_758+12delinsCA	XP_006724143.1:n.758+11_758+12delinsCA
XM_011546133.1:c.1442+11_1442+12delinsCA	XP_011544435.1:n.1442+11_1442+12delinsCA
NM_001282225.2:c.1442+11_1442+12delinsCA MANE Select	NP_001269154.1:n.1442+11_1442+12delinsCA
XM_006724080.3:c.758+11_758+12delinsCA	XP_006724143.1:n.758+11_758+12delinsCA
XM_011546133.2:c.1442+11_1442+12delinsCA	XP_011544435.1:n.1442+11_1442+12delinsCA
NM_001282226.2:c.1442+11_1442+12delinsCA	NP_001269155.1:n.1442+11_1442+12delinsCA
NM_001282227.2:c.1316+11_1316+12delinsCA	NP_001269156.1:n.1316+11_1316+12delinsCA
NM_001282228.2:c.1316+11_1316+12delinsCA	NP_001269157.1:n.1316+11_1316+12delinsCA
NM_177405.3:c.719+11_719+12delinsCA	NP_803124.1:n.719+11_719+12delinsCA
NM_001282229.2:c.1082+11_1082+12delinsCA	NP_001269158.1:n.1082+11_1082+12delinsCA