Canonical Allele Identifier: CA2678973927

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547326-GTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547327_45547330del , CM000668.2:g.45547327_45547330del	GRCh38
NC_000006.11:g.45515064_45515067del , CM000668.1:g.45515064_45515067del	GRCh37
NC_000006.10:g.45623042_45623045del	NCBI36
NG_008020.1:g.224011_224014del
NG_008020.2:g.224011_224014del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*745_*748del	ENSP00000496517.1:n.*745_*748del
ENST00000647337.2:c.*22_*25del MANE Select	ENSP00000495497.1:n.*22_*25del
ENST00000359524.7:c.*22_*25del	ENSP00000352514.5:n.*22_*25del
ENST00000371432.7:c.*22_*25del	ENSP00000360486.4:n.*22_*25del
ENST00000371436.10:c.1522_1525del	ENSP00000360491.6:n.1522_1525del
ENST00000371438.5:c.*22_*25del	ENSP00000360493.1:n.*22_*25del
ENST00000478660.6:c.*178+33674_*178+33677del	ENSP00000460188.1:n.*178+33674_*178+33677...
ENST00000576263.5:c.1021+34920_1021+34923del	ENSP00000458178.1:n.1021+34920_1021+34923...
NM_001015051.3:c.*22_*25del	NP_001015051.3:n.*22_*25del
NM_001024630.3:c.*22_*25del	NP_001019801.3:n.*22_*25del
NM_001278478.1:c.1480_1483del	NP_001265407.1:n.1480_1483del
XM_006715232.1:c.*22_*25del	XP_006715295.1:n.*22_*25del
XM_011514960.1:c.1225+34920_1225+34923del	XP_011513262.1:n.1225+34920_1225+34923del...
XM_011514961.1:c.*22_*25del	XP_011513263.1:n.*22_*25del
XM_011514962.1:c.*22_*25del	XP_011513264.1:n.*22_*25del
XM_011514963.1:c.1051+34920_1051+34923del	XP_011513265.1:n.1051+34920_1051+34923del...
XM_011514964.1:c.1435+357_1435+360del	XP_011513266.1:n.1435+357_1435+360del
XM_011514966.1:c.553+34920_553+34923del	XP_011513268.1:n.553+34920_553+34923del
NM_001024630.4:c.*22_*25del MANE Select	NP_001019801.3:n.*22_*25del
NM_001278478.2:c.*22_*25del	NP_001265407.1:n.*22_*25del
NM_001369405.1:c.*22_*25del	NP_001356334.1:n.*22_*25del
NM_001015051.4:c.*22_*25del	NP_001015051.3:n.*22_*25del