Canonical Allele Identifier: CA2579435076

Gene: CDK5RAP2

Linked Data

• gnomAD v4: 9-120439300-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439303_120439304del , CM000671.2:g.120439303_120439304del	GRCh38
NC_000009.11:g.123201581_123201582del , CM000671.1:g.123201581_123201582del	GRCh37
NC_000009.10:g.122241402_122241403del	NCBI36
NG_008999.1:g.145858_145859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.3032+97_3032+98del	ENSP00000354065.4:n.3032+97_3032+98del
ENST00000416449.6:c.3626+97_3626+98del	ENSP00000400395.2:n.3626+97_3626+98del
ENST00000479584.2:n.1969+97_1969+98del
ENST00000684780.1:n.4012+97_4012+98del
ENST00000685866.1:c.*1549+97_*1549+98del	ENSP00000509484.1:n.*1549+97_*1549+98del
ENST00000686376.1:c.3802+97_3802+98del	ENSP00000510021.1:n.3802+97_3802+98del
ENST00000686842.1:n.7276+97_7276+98del
ENST00000687279.1:c.3719+97_3719+98del	ENSP00000508692.1:n.3719+97_3719+98del
ENST00000687311.1:n.3685+97_3685+98del
ENST00000687633.1:c.3623+97_3623+98del	ENSP00000510289.1:n.3623+97_3623+98del
ENST00000688923.1:n.3094+97_3094+98del
ENST00000689688.1:c.3722+97_3722+98del	ENSP00000510155.1:n.3722+97_3722+98del
ENST00000690646.1:c.3626+97_3626+98del	ENSP00000510383.1:n.3626+97_3626+98del
ENST00000690814.1:c.*898+97_*898+98del	ENSP00000508792.1:n.*898+97_*898+98del
ENST00000691504.1:n.3616+97_3616+98del
ENST00000692155.1:c.3802+97_3802+98del	ENSP00000510290.1:n.3802+97_3802+98del
ENST00000692746.1:n.3629+97_3629+98del
ENST00000693386.1:c.3626+97_3626+98del	ENSP00000510003.1:n.3626+97_3626+98del
ENST00000693433.1:n.3616+97_3616+98del
ENST00000693714.1:n.3669+97_3669+98del
ENST00000693728.1:c.3626+97_3626+98del	ENSP00000510580.1:n.3626+97_3626+98del
ENST00000349780.9:c.3722+97_3722+98del MANE Select	ENSP00000343818.4:n.3722+97_3722+98del
ENST00000349780.8:c.3722+97_3722+98del	ENSP00000343818.4:n.3722+97_3722+98del
ENST00000360190.8:c.3722+97_3722+98del	ENSP00000353317.4:n.3722+97_3722+98del
ENST00000360822.7:c.3032+97_3032+98del	ENSP00000354065.4:n.3032+97_3032+98del
ENST00000416449.5:c.1904+97_1904+98del	ENSP00000400395.1:n.1904+97_1904+98del
ENST00000425647.1:c.752+97_752+98del	ENSP00000409941.1:n.752+97_752+98del
ENST00000473282.6:c.*2546+97_*2546+98del	ENSP00000419265.1:n.*2546+97_*2546+98del
ENST00000480112.5:c.*1549+97_*1549+98del	ENSP00000418418.1:n.*1549+97_*1549+98del
ENST00000483412.5:n.3030+97_3030+98del
NM_001011649.2:c.3722+97_3722+98del	NP_001011649.1:n.3722+97_3722+98del
NM_001272039.1:c.3032+97_3032+98del	NP_001258968.1:n.3032+97_3032+98del
NM_018249.5:c.3722+97_3722+98del	NP_060719.4:n.3722+97_3722+98del
NR_073554.1:n.3991+97_3991+98del
NR_073555.1:n.3914+97_3914+98del
NR_073556.1:n.4121+97_4121+98del
NR_073557.1:n.3994+97_3994+98del
NR_073558.1:n.3991+97_3991+98del
XM_006717182.1:c.3626+97_3626+98del	XP_006717245.1:n.3626+97_3626+98del
XM_006717185.1:c.3035+97_3035+98del	XP_006717248.1:n.3035+97_3035+98del
XM_011518860.1:c.3719+97_3719+98del	XP_011517162.1:n.3719+97_3719+98del
XM_011518861.1:c.3719+97_3719+98del	XP_011517163.1:n.3719+97_3719+98del
XM_017014921.1:c.3623+97_3623+98del	XP_016870410.1:n.3623+97_3623+98del
XM_017014922.1:c.2888+97_2888+98del	XP_016870411.1:n.2888+97_2888+98del
XM_017014923.1:c.3035+97_3035+98del	XP_016870412.1:n.3035+97_3035+98del
XM_017014924.1:c.1517+97_1517+98del	XP_016870413.1:n.1517+97_1517+98del
NM_018249.6:c.3722+97_3722+98del MANE Select	NP_060719.4:n.3722+97_3722+98del
NM_001011649.3:c.3722+97_3722+98del	NP_001011649.1:n.3722+97_3722+98del
NR_073554.2:n.3988+97_3988+98del
NR_073555.2:n.3911+97_3911+98del
NR_073556.2:n.4118+97_4118+98del
NR_073557.2:n.3991+97_3991+98del
NR_073558.2:n.3988+97_3988+98del
NM_001272039.2:c.3032+97_3032+98del	NP_001258968.1:n.3032+97_3032+98del