Canonical Allele Identifier: CA2499223714

Gene: ADAD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84194538_84194539insA , CM000678.2:g.84194538_84194539insA	GRCh38
NC_000016.9:g.84228144_84228145insA , CM000678.1:g.84228144_84228145insA	GRCh37
NC_000016.8:g.82785645_82785646insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145400.2:c.515_516insA MANE Select	NP_001138872.1:p.Leu173AlafsTer?
ENST00000315906.10:c.515_516insA MANE Select	ENSP00000325153.6:p.Leu173AlafsTer?
NM_001145400.1:c.515_516insA	NP_001138872.1:p.Leu173AlafsTer?
NM_139174.3:c.731_732insA	NP_631913.3:p.Leu245AlafsTer?
NM_139174.4:c.731_732insA	NP_631913.3:p.Leu245AlafsTer?
NR_147175.1:n.652_653insT
ENST00000268624.7:c.731_732insA	ENSP00000268624.3:p.Leu245AlafsTer?
ENST00000315906.9:c.515_516insA	ENSP00000325153.5:p.Leu173AlafsTer?
ENST00000564169.1:n.180_181insA
ENST00000564430.1:n.815_816insA
ENST00000566526.5:n.1343_1344insA
ENST00000567685.1:c.289_290insA
ENST00000569221.1:n.144_145insA
XM_005255814.1:c.515_516insA	XP_005255871.1:p.Leu173AlafsTer?
XM_011522919.1:c.731_732insA	XP_011521221.1:p.Leu245AlafsTer?
XM_011522920.1:c.341_342insA	XP_011521222.1:p.Leu115AlafsTer?