Canonical Allele Identifier: CA898163617

Gene: ADCY5

Linked Data

• dbSNP Id: rs1249262693
• gnomAD v3: 3-123319366-AAT-A
• gnomAD v4: 3-123319366-AAT-A
• MyVariant Identifiers: chr3:g.123038214_123038215del (hg19) ; chr3:g.123319367_123319368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319367_123319368del , CM000665.2:g.123319367_123319368del	GRCh38
NC_000003.11:g.123038214_123038215del , CM000665.1:g.123038214_123038215del	GRCh37
NC_000003.10:g.124520904_124520905del	NCBI36
NG_033882.1:g.134178_134179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.933+306_933+307del	ENSP00000420082.2:n.933+306_933+307del
ENST00000470367.2:c.1221+306_1221+307del	ENSP00000514541.1:n.1221+306_1221+307del
ENST00000483566.2:c.933+306_933+307del	ENSP00000420252.2:n.933+306_933+307del
ENST00000699714.1:c.933+306_933+307del	ENSP00000514539.1:n.933+306_933+307del
ENST00000699715.1:c.933+306_933+307del	ENSP00000514540.1:n.933+306_933+307del
ENST00000699716.1:c.933+306_933+307del	ENSP00000514542.1:n.933+306_933+307del
ENST00000699718.1:c.2256+306_2256+307del	ENSP00000514543.1:n.2256+306_2256+307del
ENST00000699719.1:n.515+306_515+307del
ENST00000462833.6:c.2256+306_2256+307del MANE Select	ENSP00000419361.1:n.2256+306_2256+307del
ENST00000309879.9:c.1206+306_1206+307del	ENSP00000308685.5:n.1206+306_1206+307del
ENST00000462833.5:c.2256+306_2256+307del	ENSP00000419361.1:n.2256+306_2256+307del
ENST00000466617.5:c.933+306_933+307del	ENSP00000420082.1:n.933+306_933+307del
ENST00000491190.5:c.1155+306_1155+307del	ENSP00000418537.1:n.1155+306_1155+307del
NM_001199642.1:c.1206+306_1206+307del	NP_001186571.1:n.1206+306_1206+307del
NM_183357.2:c.2256+306_2256+307del	NP_899200.1:n.2256+306_2256+307del
XM_005247077.2:c.2256+306_2256+307del	XP_005247134.1:n.2256+306_2256+307del
XM_005247078.1:c.1206+306_1206+307del	XP_005247135.1:n.1206+306_1206+307del
XM_006713483.1:c.1155+306_1155+307del	XP_006713546.1:n.1155+306_1155+307del
XM_006713484.1:c.933+306_933+307del	XP_006713547.1:n.933+306_933+307del
XM_011512358.1:c.2256+306_2256+307del	XP_011510660.1:n.2256+306_2256+307del
XM_011512359.1:c.1257+306_1257+307del	XP_011510661.1:n.1257+306_1257+307del
XM_011512360.1:c.1167+306_1167+307del	XP_011510662.1:n.1167+306_1167+307del
XM_011512361.1:c.933+306_933+307del	XP_011510663.1:n.933+306_933+307del
XM_005247077.4:c.2256+306_2256+307del	XP_005247134.1:n.2256+306_2256+307del
XM_011512359.2:c.1257+306_1257+307del	XP_011510661.1:n.1257+306_1257+307del
XM_011512360.3:c.1167+306_1167+307del	XP_011510662.1:n.1167+306_1167+307del
XM_017005638.1:c.1158+306_1158+307del	XP_016861127.1:n.1158+306_1158+307del
XM_017005639.1:c.1158+306_1158+307del	XP_016861128.1:n.1158+306_1158+307del
NM_001378259.1:c.2256+306_2256+307del	NP_001365188.1:n.2256+306_2256+307del
NM_183357.3:c.2256+306_2256+307del MANE Select	NP_899200.1:n.2256+306_2256+307del