Canonical Allele Identifier: CA10376925

Gene: GK

Linked Data

• dbSNP Id: rs752269119
• ExAC: X:30742190 ATG / A
• gnomAD v2: X-30742190-ATG-A
• gnomAD v3: X-30724073-ATG-A
• gnomAD v4: X-30724073-ATG-A
• MyVariant Identifiers: chrX:g.30742191_30742192del (hg19) ; chrX:g.30724074_30724075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724077_30724078del , CM000685.2:g.30724077_30724078del	GRCh38
NC_000023.10:g.30742194_30742195del , CM000685.1:g.30742194_30742195del	GRCh37
NC_000023.9:g.30652115_30652116del	NCBI36
NG_008178.1:g.75719_75720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1568-24_1568-23del	ENSP00000509378.1:n.1568-24_1568-23del
ENST00000427190.6:c.1502-24_1502-23del MANE Select	ENSP00000401720.2:n.1502-24_1502-23del
ENST00000479048.6:c.*1205-24_*1205-23del	ENSP00000420676.1:n.*1205-24_*1205-23del
ENST00000378943.7:c.1484-24_1484-23del	ENSP00000368226.3:n.1484-24_1484-23del
ENST00000378945.7:c.1484-24_1484-23del	ENSP00000368228.3:n.1484-24_1484-23del
ENST00000378946.7:c.1502-24_1502-23del	ENSP00000368229.3:n.1502-24_1502-23del
ENST00000427190.5:c.1502-24_1502-23del	ENSP00000401720.2:n.1502-24_1502-23del
ENST00000481024.5:c.*1358-24_*1358-23del	ENSP00000418873.1:n.*1358-24_*1358-23del
NM_000167.5:c.1484-24_1484-23del	NP_000158.1:n.1484-24_1484-23del
NM_001128127.2:c.1484-24_1484-23del	NP_001121599.1:n.1484-24_1484-23del
NM_001205019.1:c.1502-24_1502-23del	NP_001191948.1:n.1502-24_1502-23del
NM_203391.3:c.1502-24_1502-23del	NP_976325.1:n.1502-24_1502-23del
XM_005274488.3:c.869-24_869-23del	XP_005274545.1:n.869-24_869-23del
XM_006724483.2:c.1568-24_1568-23del	XP_006724546.1:n.1568-24_1568-23del
XM_006724484.2:c.1568-24_1568-23del	XP_006724547.1:n.1568-24_1568-23del
XM_006724485.2:c.887-24_887-23del	XP_006724548.1:n.887-24_887-23del
XM_006724486.2:c.887-24_887-23del	XP_006724549.1:n.887-24_887-23del
XM_011545491.1:c.1586-24_1586-23del	XP_011543793.1:n.1586-24_1586-23del
XM_011545492.1:c.1586-24_1586-23del	XP_011543794.1:n.1586-24_1586-23del
XM_011545493.1:c.887-24_887-23del	XP_011543795.1:n.887-24_887-23del
XM_011545494.1:c.887-24_887-23del	XP_011543796.1:n.887-24_887-23del
XM_005274488.4:c.869-24_869-23del	XP_005274545.1:n.869-24_869-23del
XM_006724486.3:c.887-24_887-23del	XP_006724549.1:n.887-24_887-23del
XM_011545491.2:c.1586-24_1586-23del	XP_011543793.1:n.1586-24_1586-23del
XM_011545493.2:c.887-24_887-23del	XP_011543795.1:n.887-24_887-23del
XM_011545494.2:c.887-24_887-23del	XP_011543796.1:n.887-24_887-23del
XM_017029409.1:c.887-24_887-23del	XP_016884898.1:n.887-24_887-23del
XM_017029410.1:c.887-24_887-23del	XP_016884899.1:n.887-24_887-23del
XM_017029411.1:c.869-24_869-23del	XP_016884900.1:n.869-24_869-23del
XM_017029412.2:c.869-24_869-23del	XP_016884901.1:n.869-24_869-23del
NM_000167.6:c.1484-24_1484-23del	NP_000158.1:n.1484-24_1484-23del
NM_001128127.3:c.1484-24_1484-23del	NP_001121599.1:n.1484-24_1484-23del
NM_001205019.2:c.1502-24_1502-23del MANE Select	NP_001191948.1:n.1502-24_1502-23del
NM_203391.4:c.1502-24_1502-23del	NP_976325.1:n.1502-24_1502-23del
NM_001399987.1:c.1568-24_1568-23del	NP_001386916.1:n.1568-24_1568-23del
NR_174369.1:n.1782-24_1782-23del
NR_174370.1:n.1510-24_1510-23del
NR_174371.1:n.1436-24_1436-23del
NR_174372.1:n.1418-24_1418-23del
NR_174373.1:n.1492-24_1492-23del
NR_174374.1:n.1436-24_1436-23del
NR_174375.1:n.1418-24_1418-23del