Canonical Allele Identifier: CA138460559

Gene: RUNX2

Linked Data

• dbSNP Id: rs550883071
• gnomAD v2: 6-45515109-TAGAG-T
• gnomAD v3: 6-45547372-TAGAG-T
• gnomAD v4: 6-45547372-TAGAG-T
• MyVariant Identifiers: chr6:g.45515110_45515113del (hg19) ; chr6:g.45547373_45547376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547377_45547380del , CM000668.2:g.45547377_45547380del	GRCh38
NC_000006.11:g.45515114_45515117del , CM000668.1:g.45515114_45515117del	GRCh37
NC_000006.10:g.45623092_45623095del	NCBI36
NG_008020.1:g.224061_224064del
NG_008020.2:g.224061_224064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*795_*798del	ENSP00000496517.1:n.*795_*798del
ENST00000647337.2:c.*72_*75del MANE Select	ENSP00000495497.1:n.*72_*75del
ENST00000359524.7:c.*72_*75del	ENSP00000352514.5:n.*72_*75del
ENST00000371432.7:c.*72_*75del	ENSP00000360486.4:n.*72_*75del
ENST00000371436.10:c.1572_1575del	ENSP00000360491.6:n.1572_1575del
ENST00000371438.5:c.*72_*75del	ENSP00000360493.1:n.*72_*75del
ENST00000478660.6:c.*178+33724_*178+33727del	ENSP00000460188.1:n.*178+33724_*178+33727del
ENST00000576263.5:c.1021+34970_1021+34973del	ENSP00000458178.1:n.1021+34970_1021+34973del
NM_001015051.3:c.*72_*75del	NP_001015051.3:n.*72_*75del
NM_001024630.3:c.*72_*75del	NP_001019801.3:n.*72_*75del
NM_001278478.1:c.1530_1533del	NP_001265407.1:n.1530_1533del
XM_006715232.1:c.*72_*75del	XP_006715295.1:n.*72_*75del
XM_011514960.1:c.1225+34970_1225+34973del	XP_011513262.1:n.1225+34970_1225+34973del
XM_011514961.1:c.*72_*75del	XP_011513263.1:n.*72_*75del
XM_011514962.1:c.*72_*75del	XP_011513264.1:n.*72_*75del
XM_011514963.1:c.1051+34970_1051+34973del	XP_011513265.1:n.1051+34970_1051+34973del
XM_011514964.1:c.1435+407_1435+410del	XP_011513266.1:n.1435+407_1435+410del
XM_011514966.1:c.553+34970_553+34973del	XP_011513268.1:n.553+34970_553+34973del
NM_001024630.4:c.*72_*75del MANE Select	NP_001019801.3:n.*72_*75del
NM_001278478.2:c.*72_*75del	NP_001265407.1:n.*72_*75del
NM_001369405.1:c.*72_*75del	NP_001356334.1:n.*72_*75del
NM_001015051.4:c.*72_*75del	NP_001015051.3:n.*72_*75del