Canonical Allele Identifier: CA545690179

Gene: ADCY5

Linked Data

• dbSNP Id: rs1559773511
• gnomAD v2: 3-123003464-C-CG
• gnomAD v3: 3-123284617-C-CG
• gnomAD v4: 3-123284617-C-CG
• MyVariant Identifiers: chr3:g.123003464_123003465insG (hg19) ; chr3:g.123284617_123284618insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284622dup , CM000665.2:g.123284622dup	GRCh38
NC_000003.11:g.123003469dup , CM000665.1:g.123003469dup	GRCh37
NC_000003.10:g.124486159dup	NCBI36
NG_033882.1:g.168928dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2453dup	ENSP00000420082.2:p.Leu819AlafsTer?
ENST00000470367.2:c.2741dup	ENSP00000514541.1:p.Leu915AlafsTer?
ENST00000483566.2:c.2453dup	ENSP00000420252.2:p.Leu819AlafsTer?
ENST00000699714.1:c.2453dup	ENSP00000514539.1:p.Leu819AlafsTer?
ENST00000699715.1:c.2453dup	ENSP00000514540.1:p.Leu819AlafsTer?
ENST00000699716.1:c.2453dup	ENSP00000514542.1:p.Leu819AlafsTer?
ENST00000699717.1:n.2179dup
ENST00000699718.1:c.3851dup	ENSP00000514543.1:p.Leu1285AlafsTer?
ENST00000462833.6:c.3776dup MANE Select	ENSP00000419361.1:p.Leu1260AlafsTer?
ENST00000309879.9:c.2726dup	ENSP00000308685.5:p.Leu910AlafsTer?
ENST00000462833.5:c.3776dup	ENSP00000419361.1:p.Leu1260AlafsTer?
ENST00000478092.1:n.546dup
ENST00000491190.5:c.2750dup	ENSP00000418537.1:p.Leu918AlafsTer?
NM_001199642.1:c.2726dup	NP_001186571.1:p.Leu910AlafsTer?
NM_183357.2:c.3776dup	NP_899200.1:p.Leu1260AlafsTer?
XM_005247077.2:c.3851dup	XP_005247134.1:p.Leu1285AlafsTer?
XM_005247078.1:c.2801dup	XP_005247135.1:p.Leu935AlafsTer?
XM_006713483.1:c.2750dup	XP_006713546.1:p.Leu918AlafsTer?
XM_006713484.1:c.2528dup	XP_006713547.1:p.Leu844AlafsTer?
XM_011512359.1:c.2852dup	XP_011510661.1:p.Leu952AlafsTer?
XM_011512360.1:c.2762dup	XP_011510662.1:p.Leu922AlafsTer?
XM_011512361.1:c.2528dup	XP_011510663.1:p.Leu844AlafsTer?
XM_005247077.4:c.3851dup	XP_005247134.1:p.Leu1285AlafsTer?
XM_011512359.2:c.2852dup	XP_011510661.1:p.Leu952AlafsTer?
XM_011512360.3:c.2762dup	XP_011510662.1:p.Leu922AlafsTer?
XM_017005638.1:c.2753dup	XP_016861127.1:p.Leu919AlafsTer?
XM_017005639.1:c.2753dup	XP_016861128.1:p.Leu919AlafsTer?
NM_001378259.1:c.3851dup	NP_001365188.1:p.Leu1285AlafsTer?
NM_183357.3:c.3776dup MANE Select	NP_899200.1:p.Leu1260AlafsTer?