Canonical Allele Identifier: CA1876636207

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs2035768851
• gnomAD v4: 9-120439427-TCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439429_120439431del , CM000671.2:g.120439429_120439431del	GRCh38
NC_000009.11:g.123201707_123201709del , CM000671.1:g.123201707_123201709del	GRCh37
NC_000009.10:g.122241528_122241530del	NCBI36
NG_008999.1:g.145730_145732del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3001_3003del	ENSP00000354065.4:p.Gln1001del
ENST00000416449.6:c.3595_3597del	ENSP00000400395.2:p.Gln1199del
ENST00000479584.2:n.1938_1940del
ENST00000684780.1:n.3981_3983del
ENST00000685866.1:c.*1518_*1520del	ENSP00000509484.1:n.*1518_*1520del
ENST00000686376.1:c.3771_3773del	ENSP00000510021.1:n.3771_3773del
ENST00000686842.1:n.7245_7247del
ENST00000687279.1:c.3688_3690del	ENSP00000508692.1:p.Gln1230del
ENST00000687311.1:n.3654_3656del
ENST00000687633.1:c.3592_3594del	ENSP00000510289.1:p.Gln1198del
ENST00000688923.1:n.3063_3065del
ENST00000689688.1:c.3691_3693del	ENSP00000510155.1:p.Gln1231del
ENST00000690646.1:c.3595_3597del	ENSP00000510383.1:p.Gln1199del
ENST00000690814.1:c.*867_*869del	ENSP00000508792.1:n.*867_*869del
ENST00000691504.1:n.3585_3587del
ENST00000692155.1:c.3771_3773del	ENSP00000510290.1:n.3771_3773del
ENST00000692746.1:n.3598_3600del
ENST00000693386.1:c.3595_3597del	ENSP00000510003.1:p.Gln1199del
ENST00000693433.1:n.3585_3587del
ENST00000693714.1:n.3638_3640del
ENST00000693728.1:c.3595_3597del	ENSP00000510580.1:p.Gln1199del
ENST00000349780.9:c.3691_3693del MANE Select	ENSP00000343818.4:p.Gln1231del
ENST00000349780.8:c.3691_3693del	ENSP00000343818.4:p.Gln1231del
ENST00000360190.8:c.3691_3693del	ENSP00000353317.4:p.Gln1231del
ENST00000360822.7:c.3001_3003del	ENSP00000354065.4:p.Gln1001del
ENST00000416449.5:c.1873_1875del	ENSP00000400395.1:p.Gln625del
ENST00000425647.1:c.721_723del	ENSP00000409941.1:p.Gln241del
ENST00000473282.6:c.*2515_*2517del	ENSP00000419265.1:n.*2515_*2517del
ENST00000480112.5:c.*1518_*1520del	ENSP00000418418.1:n.*1518_*1520del
ENST00000483412.5:n.2999_3001del
NM_001011649.2:c.3691_3693del	NP_001011649.1:p.Gln1231del
NM_001272039.1:c.3001_3003del	NP_001258968.1:p.Gln1001del
NM_018249.5:c.3691_3693del	NP_060719.4:p.Gln1231del
NR_073554.1:n.3960_3962del
NR_073555.1:n.3883_3885del
NR_073556.1:n.4090_4092del
NR_073557.1:n.3963_3965del
NR_073558.1:n.3960_3962del
XM_006717182.1:c.3595_3597del	XP_006717245.1:p.Gln1199del
XM_006717185.1:c.3004_3006del	XP_006717248.1:p.Gln1002del
XM_011518860.1:c.3688_3690del	XP_011517162.1:p.Gln1230del
XM_011518861.1:c.3688_3690del	XP_011517163.1:p.Gln1230del
XM_017014921.1:c.3592_3594del	XP_016870410.1:p.Gln1198del
XM_017014922.1:c.2857_2859del	XP_016870411.1:p.Gln953del
XM_017014923.1:c.3004_3006del	XP_016870412.1:p.Gln1002del
XM_017014924.1:c.1486_1488del	XP_016870413.1:p.Gln496del
NM_018249.6:c.3691_3693del MANE Select	NP_060719.4:p.Gln1231del
NM_001011649.3:c.3691_3693del	NP_001011649.1:p.Gln1231del
NR_073554.2:n.3957_3959del
NR_073555.2:n.3880_3882del
NR_073556.2:n.4087_4089del
NR_073557.2:n.3960_3962del
NR_073558.2:n.3957_3959del
NM_001272039.2:c.3001_3003del	NP_001258968.1:p.Gln1001del