Canonical Allele Identifier: CA3310122

Gene: POLK

Linked Data

• dbSNP Id: rs780672044
• ExAC: 5:74893773 C / CA
• gnomAD v2: 5-74893773-C-CA
• gnomAD v4: 5-75597948-C-CA
• MyVariant Identifiers: chr5:g.74893773_74893774insA (hg19) ; chr5:g.75597948_75597949insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75597951dup , CM000667.2:g.75597951dup	GRCh38
NC_000005.9:g.74893776dup , CM000667.1:g.74893776dup	GRCh37
NC_000005.8:g.74929532dup	NCBI36
NG_051590.1:g.91202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241436.9:c.2546dup MANE Select	ENSP00000241436.4:p.Tyr850ValfsTer17
ENST00000241436.8:c.2546dup	ENSP00000241436.4:p.Tyr850ValfsTer17
ENST00000502567.1:n.391dup
ENST00000503479.6:c.*1069dup	ENSP00000421997.2:n.*1069dup
ENST00000504026.5:c.1417dup	ENSP00000425075.1:n.1417dup
ENST00000505069.1:n.270dup
ENST00000505975.5:c.2660dup	ENSP00000424859.1:n.2660dup
ENST00000506928.5:n.2669dup
ENST00000508526.5:c.1952dup	ENSP00000426853.1:p.Tyr652ValfsTer17
ENST00000509126.2:c.2374dup	ENSP00000423532.1:n.2374dup
ENST00000510815.6:c.*1069dup	ENSP00000422094.2:n.*1069dup
ENST00000511527.5:c.1531dup	ENSP00000420997.1:n.1531dup
ENST00000514141.5:c.*1165dup	ENSP00000423526.1:n.*1165dup
NM_016218.2:c.2546dup	NP_057302.1:p.Tyr850ValfsTer17
XM_005248534.3:c.2588dup	XP_005248591.1:p.Tyr864ValfsTer17
XM_006714652.2:c.1301dup	XP_006714715.1:p.Tyr435ValfsTer17
XM_011543463.1:c.2588dup	XP_011541765.1:p.Tyr864ValfsTer17
XM_011543464.1:c.2588dup	XP_011541766.1:p.Tyr864ValfsTer17
XM_011543465.1:c.2588dup	XP_011541767.1:p.Tyr864ValfsTer17
XM_011543466.1:c.2588dup	XP_011541768.1:p.Tyr864ValfsTer17
XM_011543467.1:c.2318dup	XP_011541769.1:p.Tyr774ValfsTer17
XR_241784.1:n.2554dup
XR_948273.1:n.2738dup
NM_001345921.1:c.2348dup	NP_001332850.1:p.Tyr784ValfsTer17
NM_001345922.1:c.2276dup	NP_001332851.1:p.Tyr760ValfsTer17
NM_016218.3:c.2546dup	NP_057302.1:p.Tyr850ValfsTer17
NR_144315.1:n.2552dup
XM_005248534.5:c.2588dup	XP_005248591.1:p.Tyr864ValfsTer17
XM_006714652.4:c.1301dup	XP_006714715.1:p.Tyr435ValfsTer17
XM_011543463.3:c.2588dup	XP_011541765.1:p.Tyr864ValfsTer17
XM_011543464.3:c.2588dup	XP_011541766.1:p.Tyr864ValfsTer17
XM_011543467.3:c.2318dup	XP_011541769.1:p.Tyr774ValfsTer17
XM_017009559.2:c.2546dup	XP_016865048.1:p.Tyr850ValfsTer17
XM_017009560.2:c.2546dup	XP_016865049.1:p.Tyr850ValfsTer17
XM_017009561.2:c.2390dup	XP_016865050.1:p.Tyr798ValfsTer17
XM_017009563.2:c.2276dup	XP_016865052.1:p.Tyr760ValfsTer17
XR_001742105.2:n.3036dup
XR_001742107.2:n.3120dup
XR_001742108.2:n.2654dup
XR_241784.3:n.3078dup
XR_948273.3:n.2738dup
NM_001345921.2:c.2348dup	NP_001332850.1:p.Tyr784ValfsTer17
NM_001345922.2:c.2276dup	NP_001332851.1:p.Tyr760ValfsTer17
NM_001387110.2:c.2537dup	NP_001374039.1:p.Tyr847ValfsTer17
NM_001387111.2:c.2588dup	NP_001374040.1:p.Tyr864ValfsTer17
NM_001387113.2:c.2546dup	NP_001374042.1:p.Tyr850ValfsTer17
NM_016218.5:c.2546dup	NP_057302.1:p.Tyr850ValfsTer17
NR_144315.2:n.2411dup
NR_170559.2:n.2400dup
NR_170560.2:n.2632dup
NM_001345921.3:c.2348dup	NP_001332850.1:p.Tyr784ValfsTer17
NM_001345922.3:c.2276dup	NP_001332851.1:p.Tyr760ValfsTer17
NM_001387110.3:c.2537dup	NP_001374039.1:p.Tyr847ValfsTer17
NM_001387111.3:c.2588dup	NP_001374040.1:p.Tyr864ValfsTer17
NM_001387113.3:c.2546dup	NP_001374042.1:p.Tyr850ValfsTer17
NM_001395893.1:c.2276dup	NP_001382822.1:p.Tyr760ValfsTer17
NM_001395894.1:c.2588dup	NP_001382823.1:p.Tyr864ValfsTer17
NM_001395897.1:c.2585dup	NP_001382826.1:p.Tyr863ValfsTer17
NM_001395899.1:c.2393dup	NP_001382828.1:p.Tyr799ValfsTer17
NM_001395900.1:c.2348dup	NP_001382829.1:p.Tyr784ValfsTer17
NM_001395901.1:c.2306dup	NP_001382830.1:p.Tyr770ValfsTer17
NM_001395902.1:c.2276dup	NP_001382831.1:p.Tyr760ValfsTer17
NM_016218.6:c.2546dup MANE Select	NP_057302.1:p.Tyr850ValfsTer17
NR_144315.3:n.2411dup
NR_170559.3:n.2400dup
NR_170560.3:n.2632dup