Canonical Allele Identifier: CA658799034

Gene: ASXL3

Linked Data

• ClinVar Variation Id: 524030
• ClinVar RCV Id: RCV000627525 ; RCV001265438
• dbSNP Id: rs1555744178
• MyVariant Identifiers: chr18:g.31324031_31324032del (hg19) ; chr18:g.33744067_33744068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744067_33744068del , CM000680.2:g.33744067_33744068del	GRCh38
NC_000018.9:g.31324031_31324032del , CM000680.1:g.31324031_31324032del	GRCh37
NC_000018.8:g.29578029_29578030del	NCBI36
NG_055244.1:g.170491_170492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4222_4223del	ENSP00000513003.1:p.Leu1408GlyfsTer20
ENST00000269197.12:c.4219_4220del MANE Select	ENSP00000269197.4:p.Leu1407GlyfsTer20
ENST00000681521.1:c.4099_4100del	ENSP00000506037.1:p.Leu1367GlyfsTer20
ENST00000269197.9:c.4219_4220del	ENSP00000269197.4:p.Leu1407GlyfsTer20
NM_030632.1:c.4219_4220del	NP_085135.1:p.Leu1407GlyfsTer20
XM_005258356.1:c.4222_4223del	XP_005258413.1:p.Leu1408GlyfsTer20
XM_011526205.1:c.4195_4196del	XP_011524507.1:p.Leu1399GlyfsTer20
XM_011526206.1:c.4141_4142del	XP_011524508.1:p.Leu1381GlyfsTer20
XM_011526207.1:c.4141_4142del	XP_011524509.1:p.Leu1381GlyfsTer20
XM_011526208.1:c.4102_4103del	XP_011524510.1:p.Leu1368GlyfsTer20
XM_011526209.1:c.4051_4052del	XP_011524511.1:p.Leu1351GlyfsTer20
XM_011526210.1:c.4051_4052del	XP_011524512.1:p.Leu1351GlyfsTer20
XM_011526211.1:c.4051_4052del	XP_011524513.1:p.Leu1351GlyfsTer20
XM_011526212.1:c.4051_4052del	XP_011524514.1:p.Leu1351GlyfsTer20
XM_011526213.1:c.4051_4052del	XP_011524515.1:p.Leu1351GlyfsTer20
XM_011526214.1:c.4051_4052del	XP_011524516.1:p.Leu1351GlyfsTer20
XM_011526215.1:c.1183_1184del	XP_011524517.1:p.Leu395GlyfsTer20
NM_030632.2:c.4219_4220del	NP_085135.1:p.Leu1407GlyfsTer20
XM_011526205.2:c.4195_4196del	XP_011524507.1:p.Leu1399GlyfsTer20
XM_011526206.2:c.4141_4142del	XP_011524508.1:p.Leu1381GlyfsTer20
XM_011526213.2:c.4051_4052del	XP_011524515.1:p.Leu1351GlyfsTer20
XM_017026012.1:c.4141_4142del	XP_016881501.1:p.Leu1381GlyfsTer20
XM_017026013.1:c.4051_4052del	XP_016881502.1:p.Leu1351GlyfsTer20
XM_017026014.2:c.4051_4052del	XP_016881503.1:p.Leu1351GlyfsTer20
XM_024451269.1:c.4051_4052del	XP_024307037.1:p.Leu1351GlyfsTer20
NM_030632.3:c.4219_4220del MANE Select	NP_085135.1:p.Leu1407GlyfsTer20