Canonical Allele Identifier: CA2579577842

Gene: GK

Linked Data

• gnomAD v4: X-30724124-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724126del , CM000685.2:g.30724126del	GRCh38
NC_000023.10:g.30742243del , CM000685.1:g.30742243del	GRCh37
NC_000023.9:g.30652164del	NCBI36
NG_008178.1:g.75768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1593del	ENSP00000509378.1:p.Trp531Ter
ENST00000427190.6:c.1527del MANE Select	ENSP00000401720.2:p.Trp509Ter
ENST00000479048.6:c.*1230del	ENSP00000420676.1:n.*1230del
ENST00000378943.7:c.1509del	ENSP00000368226.3:p.Trp503Ter
ENST00000378945.7:c.1509del	ENSP00000368228.3:p.Trp503Ter
ENST00000378946.7:c.1527del	ENSP00000368229.3:p.Trp509Ter
ENST00000427190.5:c.1527del	ENSP00000401720.2:p.Trp509Ter
ENST00000481024.5:c.*1383del	ENSP00000418873.1:n.*1383del
NM_000167.5:c.1509del	NP_000158.1:p.Trp503Ter
NM_001128127.2:c.1509del	NP_001121599.1:p.Trp503Ter
NM_001205019.1:c.1527del	NP_001191948.1:p.Trp509Ter
NM_203391.3:c.1527del	NP_976325.1:p.Trp509Ter
XM_005274488.3:c.894del	XP_005274545.1:p.Trp298Ter
XM_006724483.2:c.1593del	XP_006724546.1:p.Trp531Ter
XM_006724484.2:c.1593del	XP_006724547.1:p.Trp531Ter
XM_006724485.2:c.912del	XP_006724548.1:p.Trp304Ter
XM_006724486.2:c.912del	XP_006724549.1:p.Trp304Ter
XM_011545491.1:c.1611del	XP_011543793.1:p.Trp537Ter
XM_011545492.1:c.1611del	XP_011543794.1:p.Trp537Ter
XM_011545493.1:c.912del	XP_011543795.1:p.Trp304Ter
XM_011545494.1:c.912del	XP_011543796.1:p.Trp304Ter
XM_005274488.4:c.894del	XP_005274545.1:p.Trp298Ter
XM_006724486.3:c.912del	XP_006724549.1:p.Trp304Ter
XM_011545491.2:c.1611del	XP_011543793.1:p.Trp537Ter
XM_011545493.2:c.912del	XP_011543795.1:p.Trp304Ter
XM_011545494.2:c.912del	XP_011543796.1:p.Trp304Ter
XM_017029409.1:c.912del	XP_016884898.1:p.Trp304Ter
XM_017029410.1:c.912del	XP_016884899.1:p.Trp304Ter
XM_017029411.1:c.894del	XP_016884900.1:p.Trp298Ter
XM_017029412.2:c.894del	XP_016884901.1:p.Trp298Ter
NM_000167.6:c.1509del	NP_000158.1:p.Trp503Ter
NM_001128127.3:c.1509del	NP_001121599.1:p.Trp503Ter
NM_001205019.2:c.1527del MANE Select	NP_001191948.1:p.Trp509Ter
NM_203391.4:c.1527del	NP_976325.1:p.Trp509Ter
NM_001399987.1:c.1593del	NP_001386916.1:p.Trp531Ter
NR_174369.1:n.1807del
NR_174370.1:n.1535del
NR_174371.1:n.1461del
NR_174372.1:n.1443del
NR_174373.1:n.1517del
NR_174374.1:n.1461del
NR_174375.1:n.1443del