Canonical Allele Identifier: CA425172023

Gene: ADCY3

Linked Data

• dbSNP Id: rs1668062682
• gnomAD v3: 2-24823337-ACGTCT-A
• gnomAD v4: 2-24823337-ACGTCT-A
• MyVariant Identifiers: chr2:g.25046207_25046211del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823338_24823342del , CM000664.2:g.24823338_24823342del	GRCh38
NC_000002.11:g.25046207_25046211del , CM000664.1:g.25046207_25046211del	GRCh37
NC_000002.10:g.24899711_24899715del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2753_2757del	ENSP00000384484.2:p.Gln918LeufsTer2
ENST00000679454.1:c.2750_2754del MANE Select	ENSP00000505261.1:p.Gln917LeufsTer2
ENST00000260600.9:c.2750_2754del	ENSP00000260600.5:p.Gln917LeufsTer2
ENST00000405392.5:c.2753_2757del	ENSP00000384484.2:p.Gln918LeufsTer2
ENST00000485887.1:n.22_26del
ENST00000606682.5:c.1691_1695del	ENSP00000475652.1:p.Gln564LeufsTer2
NM_004036.3:c.2750_2754del	NP_004027.2:p.Gln917LeufsTer2
XM_005264104.1:c.2753_2757del	XP_005264161.1:p.Gln918LeufsTer2
XM_005264105.1:c.2750_2754del	XP_005264162.1:p.Gln917LeufsTer2
XM_006711925.1:c.2819_2823del	XP_006711988.1:p.Gln940LeufsTer2
XM_011532489.1:c.2876_2880del	XP_011530791.1:p.Gln959LeufsTer2
XM_011532490.1:c.2873_2877del	XP_011530792.1:p.Gln958LeufsTer2
XM_011532491.1:c.2810_2814del	XP_011530793.1:p.Gln937LeufsTer2
XM_011532492.1:c.2876_2880del	XP_011530794.1:p.Gln959LeufsTer2
XM_011532493.1:c.2738_2742del	XP_011530795.1:p.Gln913LeufsTer2
XM_011532494.1:c.2678_2682del	XP_011530796.1:p.Gln893LeufsTer2
XM_011532495.1:c.2210_2214del	XP_011530797.1:p.Gln737LeufsTer2
XM_011532496.1:c.2153_2157del	XP_011530798.1:p.Gln718LeufsTer2
NM_001320613.1:c.2753_2757del	NP_001307542.1:p.Gln918LeufsTer2
NM_004036.4:c.2750_2754del	NP_004027.2:p.Gln917LeufsTer2
XM_011532492.2:c.2876_2880del	XP_011530794.1:p.Gln959LeufsTer2
XM_017003186.1:c.2816_2820del	XP_016858675.1:p.Gln939LeufsTer2
XM_017003187.1:c.2807_2811del	XP_016858676.1:p.Gln936LeufsTer2
XM_017003188.1:c.2873_2877del	XP_016858677.1:p.Gln958LeufsTer2
XM_017003189.1:c.2735_2739del	XP_016858678.1:p.Gln912LeufsTer2
XM_017003190.1:c.2612_2616del	XP_016858679.1:p.Gln871LeufsTer2
XM_017003191.1:c.2240_2244del	XP_016858680.1:p.Gln747LeufsTer2
XM_017003192.1:c.2030_2034del	XP_016858681.1:p.Gln677LeufsTer2
XM_017003193.1:c.2027_2031del	XP_016858682.1:p.Gln676LeufsTer2
NM_001320613.2:c.2753_2757del	NP_001307542.1:p.Gln918LeufsTer2
NM_001377128.1:c.2816_2820del	NP_001364057.1:p.Gln939LeufsTer2
NM_001377129.1:c.2612_2616del	NP_001364058.1:p.Gln871LeufsTer2
NM_001377130.1:c.2332-712_2332-708del	NP_001364059.1:n.2332-712_2332-708del
NM_001377131.1:c.2027_2031del	NP_001364060.1:p.Gln676LeufsTer2
NM_001377132.1:c.2750_2754del	NP_001364061.1:p.Gln917LeufsTer2
NM_004036.5:c.2750_2754del MANE Select	NP_004027.2:p.Gln917LeufsTer2