Canonical Allele Identifier: CA3795621

Gene: DAAM2 MOCS1

Linked Data

• ClinVar Variation Id: 356594
• ClinVar RCV Id: RCV000393387
• dbSNP Id: rs112997952
• ExAC: 6:39872354 G / GAAAT
• gnomAD v2: 6-39872354-G-GAAAT
• gnomAD v3: 6-39904578-G-GAAAT
• gnomAD v4: 6-39904578-G-GAAAT
• MyVariant Identifiers: chr6:g.39872355_39872358dupAAAT (hg19) ; chr6:g.39872354_39872355insAAAT (hg19) ; chr6:g.39904579_39904582dupAAAT (hg38) ; chr6:g.39904578_39904579insAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39904582_39904585dup , CM000668.2:g.39904582_39904585dup	GRCh38
NC_000006.11:g.39872358_39872361dup , CM000668.1:g.39872358_39872361dup	GRCh37
NC_000006.10:g.39980336_39980339dup	NCBI36
NG_009297.1:g.34897_34900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274867.9:c.*2545_*2548dup (DAAM2) MANE Select	ENSP00000274867.4:n.*2545_*2548dup
ENST00000340692.10:c.*1775_*1778dup (MOCS1) MANE Select	ENSP00000344794.5:n.*1775_*1778dup
ENST00000645522.1:n.3839_3842dup (MOCS1)
ENST00000274867.8:c.*2545_*2548dup (DAAM2)	ENSP00000274867.4:n.*2545_*2548dup
ENST00000373181.8:c.842-320_842-317dup (MOCS1)	ENSP00000362277.4:n.842-320_842-317dup
ENST00000373186.8:c.*2543_*2546dup (MOCS1)	ENSP00000362282.4:n.*2543_*2546dup
ENST00000398904.6:c.*2545_*2548dup (DAAM2)	ENSP00000381876.2:n.*2545_*2548dup
ENST00000538976.5:c.*2545_*2548dup (DAAM2)	ENSP00000437808.1:n.*2545_*2548dup
ENST00000631498.1:n.6447_6450dup (DAAM2)
NM_001075098.3:c.*2543_*2546dup (MOCS1)	NP_001068566.1:n.*2543_*2546dup
NM_001201427.1:c.*2545_*2548dup (DAAM2)	NP_001188356.1:n.*2545_*2548dup
NM_005943.5:c.*2543_*2546dup (MOCS1)	NP_005934.2:n.*2543_*2546dup
NM_015345.3:c.*2545_*2548dup (DAAM2)	NP_056160.2:n.*2545_*2548dup
NR_033233.1:n.3645_3648dup (MOCS1)
XM_006715039.2:c.*2545_*2548dup (DAAM2)	XP_006715102.2:n.*2545_*2548dup
XM_006715040.2:c.*2545_*2548dup (DAAM2)	XP_006715103.2:n.*2545_*2548dup
XM_006715042.1:c.*2545_*2548dup (DAAM2)	XP_006715105.1:n.*2545_*2548dup
XM_006715043.1:c.*2545_*2548dup (DAAM2)	XP_006715106.1:n.*2545_*2548dup
XM_006715044.2:c.*2545_*2548dup (DAAM2)	XP_006715107.1:n.*2545_*2548dup
XM_006715045.2:c.*2545_*2548dup (DAAM2)	XP_006715108.1:n.*2545_*2548dup
XM_006715046.2:c.*2545_*2548dup (DAAM2)	XP_006715109.1:n.*2545_*2548dup
XM_011514447.1:c.*2545_*2548dup (DAAM2)	XP_011512749.1:n.*2545_*2548dup
XM_011514635.1:c.1151-320_1151-317dup (MOCS1)	XP_011512937.1:n.1151-320_1151-317dup
XR_926225.1:n.2817-320_2817-317dup (MOCS1)
NM_001358529.1:c.*1775_*1778dup (MOCS1)	NP_001345458.1:n.*1775_*1778dup
NM_001358530.1:c.*1775_*1778dup (MOCS1)	NP_001345459.1:n.*1775_*1778dup
NM_001358531.1:c.*1775_*1778dup (MOCS1)	NP_001345460.1:n.*1775_*1778dup
NM_001358533.1:c.*2543_*2546dup (MOCS1)	NP_001345462.1:n.*2543_*2546dup
NM_001358534.1:c.*2543_*2546dup (MOCS1)	NP_001345463.1:n.*2543_*2546dup
XM_006715039.3:c.*2545_*2548dup (DAAM2)	XP_006715102.3:n.*2545_*2548dup
XM_006715042.2:c.*2545_*2548dup (DAAM2)	XP_006715105.1:n.*2545_*2548dup
XM_006715043.2:c.*2545_*2548dup (DAAM2)	XP_006715106.1:n.*2545_*2548dup
XM_006715045.3:c.*2545_*2548dup (DAAM2)	XP_006715108.1:n.*2545_*2548dup
XM_006715046.4:c.*2545_*2548dup (DAAM2)	XP_006715109.1:n.*2545_*2548dup
XM_017010630.1:c.*2545_*2548dup (DAAM2)	XP_016866119.1:n.*2545_*2548dup
NM_001201427.2:c.*2545_*2548dup (DAAM2) MANE Select	NP_001188356.1:n.*2545_*2548dup
NM_001358530.2:c.*1775_*1778dup (MOCS1) MANE Select	NP_001345459.1:n.*1775_*1778dup
NM_001075098.4:c.*2543_*2546dup (MOCS1)	NP_001068566.1:n.*2543_*2546dup
NM_001358529.2:c.*1775_*1778dup (MOCS1)	NP_001345458.1:n.*1775_*1778dup
NM_001358531.2:c.*1775_*1778dup (MOCS1)	NP_001345460.1:n.*1775_*1778dup
NM_001358533.2:c.*2543_*2546dup (MOCS1)	NP_001345462.1:n.*2543_*2546dup
NR_033233.2:n.3556_3559dup (MOCS1)
NM_001358534.2:c.*2543_*2546dup (MOCS1)	NP_001345463.1:n.*2543_*2546dup
NM_005943.6:c.*2543_*2546dup (MOCS1)	NP_005934.2:n.*2543_*2546dup
NM_015345.4:c.*2545_*2548dup (DAAM2)	NP_056160.2:n.*2545_*2548dup