Canonical Allele Identifier: CA2693376650

Gene: GK

Linked Data

• gnomAD v4: X-30724026-GATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724029_30724031del , CM000685.2:g.30724029_30724031del	GRCh38
NC_000023.10:g.30742146_30742148del , CM000685.1:g.30742146_30742148del	GRCh37
NC_000023.9:g.30652067_30652069del	NCBI36
NG_008178.1:g.75671_75673del

Transcript Alleles

HGVS	Amino-acid change
ENST00000692461.1:c.1568-72_1568-70del	ENSP00000509378.1:n.1568-72_1568-70del
ENST00000427190.6:c.1502-72_1502-70del MANE Select	ENSP00000401720.2:n.1502-72_1502-70del
ENST00000479048.6:c.*1205-72_*1205-70del	ENSP00000420676.1:n.*1205-72_*1205-70del
ENST00000378943.7:c.1484-72_1484-70del	ENSP00000368226.3:n.1484-72_1484-70del
ENST00000378945.7:c.1484-72_1484-70del	ENSP00000368228.3:n.1484-72_1484-70del
ENST00000378946.7:c.1502-72_1502-70del	ENSP00000368229.3:n.1502-72_1502-70del
ENST00000427190.5:c.1502-72_1502-70del	ENSP00000401720.2:n.1502-72_1502-70del
ENST00000481024.5:c.*1358-72_*1358-70del	ENSP00000418873.1:n.*1358-72_*1358-70del
NM_000167.5:c.1484-72_1484-70del	NP_000158.1:n.1484-72_1484-70del
NM_001128127.2:c.1484-72_1484-70del	NP_001121599.1:n.1484-72_1484-70del
NM_001205019.1:c.1502-72_1502-70del	NP_001191948.1:n.1502-72_1502-70del
NM_203391.3:c.1502-72_1502-70del	NP_976325.1:n.1502-72_1502-70del
XM_005274488.3:c.869-72_869-70del	XP_005274545.1:n.869-72_869-70del
XM_006724483.2:c.1568-72_1568-70del	XP_006724546.1:n.1568-72_1568-70del
XM_006724484.2:c.1568-72_1568-70del	XP_006724547.1:n.1568-72_1568-70del
XM_006724485.2:c.887-72_887-70del	XP_006724548.1:n.887-72_887-70del
XM_006724486.2:c.887-72_887-70del	XP_006724549.1:n.887-72_887-70del
XM_011545491.1:c.1586-72_1586-70del	XP_011543793.1:n.1586-72_1586-70del
XM_011545492.1:c.1586-72_1586-70del	XP_011543794.1:n.1586-72_1586-70del
XM_011545493.1:c.887-72_887-70del	XP_011543795.1:n.887-72_887-70del
XM_011545494.1:c.887-72_887-70del	XP_011543796.1:n.887-72_887-70del
XM_005274488.4:c.869-72_869-70del	XP_005274545.1:n.869-72_869-70del
XM_006724486.3:c.887-72_887-70del	XP_006724549.1:n.887-72_887-70del
XM_011545491.2:c.1586-72_1586-70del	XP_011543793.1:n.1586-72_1586-70del
XM_011545493.2:c.887-72_887-70del	XP_011543795.1:n.887-72_887-70del
XM_011545494.2:c.887-72_887-70del	XP_011543796.1:n.887-72_887-70del
XM_017029409.1:c.887-72_887-70del	XP_016884898.1:n.887-72_887-70del
XM_017029410.1:c.887-72_887-70del	XP_016884899.1:n.887-72_887-70del
XM_017029411.1:c.869-72_869-70del	XP_016884900.1:n.869-72_869-70del
XM_017029412.2:c.869-72_869-70del	XP_016884901.1:n.869-72_869-70del
NM_000167.6:c.1484-72_1484-70del	NP_000158.1:n.1484-72_1484-70del
NM_001128127.3:c.1484-72_1484-70del	NP_001121599.1:n.1484-72_1484-70del
NM_001205019.2:c.1502-72_1502-70del MANE Select	NP_001191948.1:n.1502-72_1502-70del
NM_203391.4:c.1502-72_1502-70del	NP_976325.1:n.1502-72_1502-70del
NM_001399987.1:c.1568-72_1568-70del	NP_001386916.1:n.1568-72_1568-70del
NR_174369.1:n.1782-72_1782-70del
NR_174370.1:n.1510-72_1510-70del
NR_174371.1:n.1436-72_1436-70del
NR_174372.1:n.1418-72_1418-70del
NR_174373.1:n.1492-72_1492-70del
NR_174374.1:n.1436-72_1436-70del
NR_174375.1:n.1418-72_1418-70del