Canonical Allele Identifier: CA328364496
Community Standard Title: NM_001205019.2(GK):c.784-78_784-75dup

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30700760_30700763dup , CM000685.2:g.30700760_30700763dup GRCh38
NC_000023.10:g.30718877_30718880dup , CM000685.1:g.30718877_30718880dup GRCh37
NC_000023.9:g.30628798_30628801dup NCBI36
NG_008178.1:g.52402_52405dup

Transcript Alleles

HGVS Amino-acid Change
NM_001205019.2:c.784-78_784-75dup (GK) MANE Select NP_001191948.1:n.784-78_784-75dup
ENST00000427190.6:c.784-78_784-75dup (GK) MANE Select ENSP00000401720.2:n.784-78_784-75dup
NM_000167.5:c.766-78_766-75dup (GK) NP_000158.1:n.766-78_766-75dup
NM_000167.6:c.766-78_766-75dup (GK) NP_000158.1:n.766-78_766-75dup
NM_001128127.2:c.766-78_766-75dup (GK) NP_001121599.1:n.766-78_766-75dup
NM_001128127.3:c.766-78_766-75dup (GK) NP_001121599.1:n.766-78_766-75dup
NM_001205019.1:c.784-78_784-75dup (GK) NP_001191948.1:n.784-78_784-75dup
NM_001399987.1:c.850-78_850-75dup (GK) NP_001386916.1:n.850-78_850-75dup
NM_203391.3:c.784-78_784-75dup (GK) NP_976325.1:n.784-78_784-75dup
NM_203391.4:c.784-78_784-75dup (GK) NP_976325.1:n.784-78_784-75dup
NR_046603.1:n.17337_17340dup (GK-AS1)
NR_174369.1:n.1064-78_1064-75dup (GK)
NR_174370.1:n.792-78_792-75dup (GK)
NR_174371.1:n.718-78_718-75dup (GK)
NR_174372.1:n.700-78_700-75dup (GK)
NR_174373.1:n.774-78_774-75dup (GK)
NR_174374.1:n.718-78_718-75dup (GK)
NR_174375.1:n.700-78_700-75dup (GK)
ENST00000378943.7:c.766-78_766-75dup (GK) ENSP00000368226.3:n.766-78_766-75dup
ENST00000378945.7:c.766-78_766-75dup (GK) ENSP00000368228.3:n.766-78_766-75dup
ENST00000378946.7:c.784-78_784-75dup (GK) ENSP00000368229.3:n.784-78_784-75dup
ENST00000427190.5:c.784-78_784-75dup (GK) ENSP00000401720.2:n.784-78_784-75dup
ENST00000479048.6:c.*487-78_*487-75dup (GK) ENSP00000420676.1:n.*487-78_*487-75dup
ENST00000481024.5:c.*640-78_*640-75dup (GK) ENSP00000418873.1:n.*640-78_*640-75dup
ENST00000488296.1:c.586-78_586-75dup (GK) ENSP00000419771.1:n.586-78_586-75dup
ENST00000692461.1:c.850-78_850-75dup (GK) ENSP00000509378.1:n.850-78_850-75dup
XM_005274488.3:c.151-78_151-75dup (GK) XP_005274545.1:n.151-78_151-75dup
XM_005274488.4:c.151-78_151-75dup (GK) XP_005274545.1:n.151-78_151-75dup
XM_006724483.2:c.850-78_850-75dup (GK) XP_006724546.1:n.850-78_850-75dup
XM_006724484.2:c.850-78_850-75dup (GK) XP_006724547.1:n.850-78_850-75dup
XM_006724485.2:c.169-78_169-75dup (GK) XP_006724548.1:n.169-78_169-75dup
XM_006724486.2:c.169-78_169-75dup (GK) XP_006724549.1:n.169-78_169-75dup
XM_006724486.3:c.169-78_169-75dup (GK) XP_006724549.1:n.169-78_169-75dup
XM_011545491.1:c.868-78_868-75dup (GK) XP_011543793.1:n.868-78_868-75dup
XM_011545491.2:c.868-78_868-75dup (GK) XP_011543793.1:n.868-78_868-75dup
XM_011545492.1:c.868-78_868-75dup (GK) XP_011543794.1:n.868-78_868-75dup
XM_011545493.1:c.169-78_169-75dup (GK) XP_011543795.1:n.169-78_169-75dup
XM_011545493.2:c.169-78_169-75dup (GK) XP_011543795.1:n.169-78_169-75dup
XM_011545494.1:c.169-78_169-75dup (GK) XP_011543796.1:n.169-78_169-75dup
XM_011545494.2:c.169-78_169-75dup (GK) XP_011543796.1:n.169-78_169-75dup
XM_017029409.1:c.169-78_169-75dup (GK) XP_016884898.1:n.169-78_169-75dup
XM_017029410.1:c.169-78_169-75dup (GK) XP_016884899.1:n.169-78_169-75dup
XM_017029411.1:c.151-78_151-75dup (GK) XP_016884900.1:n.151-78_151-75dup
XM_017029412.2:c.151-78_151-75dup (GK) XP_016884901.1:n.151-78_151-75dup