Canonical Allele Identifier: CA645293925

Linked Data

ClinVar Variation Id: 426447
ClinVar RCV Id: RCV000489987
dbSNP Id: rs1085307629

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30708066_30708067insC , CM000685.2:g.30708066_30708067insC GRCh38
NC_000023.10:g.30726183_30726184insC , CM000685.1:g.30726183_30726184insC GRCh37
NC_000023.9:g.30636104_30636105insC NCBI36
NG_008178.1:g.59708_59709insC

Transcript Alleles

HGVS Amino-acid change
ENST00000692461.1:c.973_974insC (GK) ENSP00000509378.1:p.Asp325AlafsTer?
ENST00000427190.6:c.907_908insC (GK) MANE Select ENSP00000401720.2:p.Asp303AlafsTer?
ENST00000479048.6:c.*610_*611insC (GK) ENSP00000420676.1:n.*610_*611insC
ENST00000378943.7:c.889_890insC (GK) ENSP00000368226.3:p.Asp297AlafsTer?
ENST00000378945.7:c.889_890insC (GK) ENSP00000368228.3:p.Asp297AlafsTer?
ENST00000378946.7:c.907_908insC (GK) ENSP00000368229.3:p.Asp303AlafsTer?
ENST00000427190.5:c.907_908insC (GK) ENSP00000401720.2:p.Asp303AlafsTer?
ENST00000481024.5:c.*763_*764insC (GK) ENSP00000418873.1:n.*763_*764insC
NM_000167.5:c.889_890insC (GK) NP_000158.1:p.Asp297AlafsTer?
NM_001128127.2:c.889_890insC (GK) NP_001121599.1:p.Asp297AlafsTer?
NM_001205019.1:c.907_908insC (GK) NP_001191948.1:p.Asp303AlafsTer?
NM_203391.3:c.907_908insC (GK) NP_976325.1:p.Asp303AlafsTer?
XM_005274488.3:c.274_275insC (GK) XP_005274545.1:p.Asp92AlafsTer?
XM_006724483.2:c.973_974insC (GK) XP_006724546.1:p.Asp325AlafsTer?
XM_006724484.2:c.973_974insC (GK) XP_006724547.1:p.Asp325AlafsTer?
XM_006724485.2:c.292_293insC (GK) XP_006724548.1:p.Asp98AlafsTer?
XM_006724486.2:c.292_293insC (GK) XP_006724549.1:p.Asp98AlafsTer?
XM_011545491.1:c.991_992insC (GK) XP_011543793.1:p.Asp331AlafsTer?
XM_011545492.1:c.991_992insC (GK) XP_011543794.1:p.Asp331AlafsTer?
XM_011545493.1:c.292_293insC (GK) XP_011543795.1:p.Asp98AlafsTer?
XM_011545494.1:c.292_293insC (GK) XP_011543796.1:p.Asp98AlafsTer?
XM_005274488.4:c.274_275insC (GK) XP_005274545.1:p.Asp92AlafsTer?
XM_006724486.3:c.292_293insC (GK) XP_006724549.1:p.Asp98AlafsTer?
XM_011545491.2:c.991_992insC (GK) XP_011543793.1:p.Asp331AlafsTer?
XM_011545493.2:c.292_293insC (GK) XP_011543795.1:p.Asp98AlafsTer?
XM_011545494.2:c.292_293insC (GK) XP_011543796.1:p.Asp98AlafsTer?
XM_017029409.1:c.292_293insC (GK) XP_016884898.1:p.Asp98AlafsTer?
XM_017029410.1:c.292_293insC (GK) XP_016884899.1:p.Asp98AlafsTer?
XM_017029411.1:c.274_275insC (GK) XP_016884900.1:p.Asp92AlafsTer?
XM_017029412.2:c.274_275insC (GK) XP_016884901.1:p.Asp92AlafsTer?
NM_000167.6:c.889_890insC (GK) NP_000158.1:p.Asp297AlafsTer?
NM_001128127.3:c.889_890insC (GK) NP_001121599.1:p.Asp297AlafsTer?
NM_001205019.2:c.907_908insC (GK) MANE Select NP_001191948.1:p.Asp303AlafsTer?
NM_203391.4:c.907_908insC (GK) NP_976325.1:p.Asp303AlafsTer?
NR_046603.1:n.10033_10034insG (GK-AS1)
NM_001399987.1:c.973_974insC (GK) NP_001386916.1:p.Asp325AlafsTer?
NR_174369.1:n.1187_1188insC (GK)
NR_174370.1:n.915_916insC (GK)
NR_174371.1:n.841_842insC (GK)
NR_174372.1:n.823_824insC (GK)
NR_174373.1:n.897_898insC (GK)
NR_174374.1:n.841_842insC (GK)
NR_174375.1:n.823_824insC (GK)