Canonical Allele Identifier: CA545689855

Gene: ADCY5

Linked Data

• dbSNP Id: rs1179607242
• gnomAD v2: 3-123003174-C-CTGT
• gnomAD v3: 3-123284327-C-CTGT
• gnomAD v4: 3-123284327-C-CTGT
• MyVariant Identifiers: chr3:g.123003174_123003175insTGT (hg19) ; chr3:g.123284327_123284328insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284329_123284331dup , CM000665.2:g.123284329_123284331dup	GRCh38
NC_000003.11:g.123003176_123003178dup , CM000665.1:g.123003176_123003178dup	GRCh37
NC_000003.10:g.124485866_124485868dup	NCBI36
NG_033882.1:g.169216_169218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.*278_*280dup	ENSP00000420082.2:n.*278_*280dup
ENST00000470367.2:c.*278_*280dup	ENSP00000514541.1:n.*278_*280dup
ENST00000483566.2:c.*278_*280dup	ENSP00000420252.2:n.*278_*280dup
ENST00000699714.1:c.*278_*280dup	ENSP00000514539.1:n.*278_*280dup
ENST00000699715.1:c.*278_*280dup	ENSP00000514540.1:n.*278_*280dup
ENST00000699716.1:c.*278_*280dup	ENSP00000514542.1:n.*278_*280dup
ENST00000699717.1:n.2467_2469dup
ENST00000699718.1:c.4139_4141dup	ENSP00000514543.1:n.4139_4141dup
ENST00000462833.6:c.*278_*280dup MANE Select	ENSP00000419361.1:n.*278_*280dup
ENST00000462833.5:c.*278_*280dup	ENSP00000419361.1:n.*278_*280dup
ENST00000491190.5:c.*278_*280dup	ENSP00000418537.1:n.*278_*280dup
NM_001199642.1:c.*278_*280dup	NP_001186571.1:n.*278_*280dup
NM_183357.2:c.4064_4066dup	NP_899200.1:n.4064_4066dup
XM_005247077.2:c.*278_*280dup	XP_005247134.1:n.*278_*280dup
XM_005247078.1:c.*278_*280dup	XP_005247135.1:n.*278_*280dup
XM_006713483.1:c.*278_*280dup	XP_006713546.1:n.*278_*280dup
XM_006713484.1:c.*278_*280dup	XP_006713547.1:n.*278_*280dup
XM_011512359.1:c.*278_*280dup	XP_011510661.1:n.*278_*280dup
XM_011512360.1:c.*278_*280dup	XP_011510662.1:n.*278_*280dup
XM_011512361.1:c.*278_*280dup	XP_011510663.1:n.*278_*280dup
XM_005247077.4:c.*278_*280dup	XP_005247134.1:n.*278_*280dup
XM_011512359.2:c.*278_*280dup	XP_011510661.1:n.*278_*280dup
XM_011512360.3:c.*278_*280dup	XP_011510662.1:n.*278_*280dup
XM_017005638.1:c.*278_*280dup	XP_016861127.1:n.*278_*280dup
XM_017005639.1:c.*278_*280dup	XP_016861128.1:n.*278_*280dup
NM_001378259.1:c.*278_*280dup	NP_001365188.1:n.*278_*280dup
NM_183357.3:c.*278_*280dup MANE Select	NP_899200.1:n.*278_*280dup