Canonical Allele Identifier: CA545685612

Gene: ADCY5

Linked Data

• dbSNP Id: rs1559802628
• gnomAD v2: 3-123038562-T-TG
• gnomAD v4: 3-123319715-T-TG
• MyVariant Identifiers: chr3:g.123038562_123038563insG (hg19) ; chr3:g.123319715_123319716insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319716dup , CM000665.2:g.123319716dup	GRCh38
NC_000003.11:g.123038563dup , CM000665.1:g.123038563dup	GRCh37
NC_000003.10:g.124521253dup	NCBI36
NG_033882.1:g.133830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.891dup	ENSP00000420082.2:p.Lys298GlnfsTer10
ENST00000470367.2:c.1179dup	ENSP00000514541.1:p.Lys394GlnfsTer10
ENST00000483566.2:c.891dup	ENSP00000420252.2:p.Lys298GlnfsTer10
ENST00000699714.1:c.891dup	ENSP00000514539.1:p.Lys298GlnfsTer10
ENST00000699715.1:c.891dup	ENSP00000514540.1:p.Lys298GlnfsTer10
ENST00000699716.1:c.891dup	ENSP00000514542.1:p.Lys298GlnfsTer10
ENST00000699718.1:c.2214dup	ENSP00000514543.1:p.Lys739GlnfsTer10
ENST00000699719.1:n.473dup
ENST00000462833.6:c.2214dup MANE Select	ENSP00000419361.1:p.Lys739GlnfsTer10
ENST00000309879.9:c.1164dup	ENSP00000308685.5:p.Lys389GlnfsTer10
ENST00000462833.5:c.2214dup	ENSP00000419361.1:p.Lys739GlnfsTer10
ENST00000466617.5:c.891dup	ENSP00000420082.1:p.Lys298GlnfsTer10
ENST00000491190.5:c.1113dup	ENSP00000418537.1:p.Lys372GlnfsTer10
NM_001199642.1:c.1164dup	NP_001186571.1:p.Lys389GlnfsTer10
NM_183357.2:c.2214dup	NP_899200.1:p.Lys739GlnfsTer10
XM_005247077.2:c.2214dup	XP_005247134.1:p.Lys739GlnfsTer10
XM_005247078.1:c.1164dup	XP_005247135.1:p.Lys389GlnfsTer10
XM_006713483.1:c.1113dup	XP_006713546.1:p.Lys372GlnfsTer10
XM_006713484.1:c.891dup	XP_006713547.1:p.Lys298GlnfsTer10
XM_011512358.1:c.2214dup	XP_011510660.1:p.Lys739GlnfsTer10
XM_011512359.1:c.1215dup	XP_011510661.1:p.Lys406GlnfsTer10
XM_011512360.1:c.1125dup	XP_011510662.1:p.Lys376GlnfsTer10
XM_011512361.1:c.891dup	XP_011510663.1:p.Lys298GlnfsTer10
XM_005247077.4:c.2214dup	XP_005247134.1:p.Lys739GlnfsTer10
XM_011512359.2:c.1215dup	XP_011510661.1:p.Lys406GlnfsTer10
XM_011512360.3:c.1125dup	XP_011510662.1:p.Lys376GlnfsTer10
XM_017005638.1:c.1116dup	XP_016861127.1:p.Lys373GlnfsTer10
XM_017005639.1:c.1116dup	XP_016861128.1:p.Lys373GlnfsTer10
NM_001378259.1:c.2214dup	NP_001365188.1:p.Lys739GlnfsTer10
NM_183357.3:c.2214dup MANE Select	NP_899200.1:p.Lys739GlnfsTer10