Canonical Allele Identifier: CA989072449

Gene: ASXL3

Linked Data

• dbSNP Id: rs2067731309
• gnomAD v3: 18-33744458-CCACTTT-C
• gnomAD v4: 18-33744458-CCACTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.33744461_33744466del , CM000680.2:g.33744461_33744466del	GRCh38
NC_000018.9:g.31324425_31324430del , CM000680.1:g.31324425_31324430del	GRCh37
NC_000018.8:g.29578423_29578428del	NCBI36
NG_055244.1:g.170885_170890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696964.1:c.4616_4621del	ENSP00000513003.1:p.Thr1539_Phe1540del
ENST00000269197.12:c.4613_4618del MANE Select	ENSP00000269197.4:p.Thr1538_Phe1539del
ENST00000681521.1:c.4493_4498del	ENSP00000506037.1:p.Thr1498_Phe1499del
ENST00000269197.9:c.4613_4618del	ENSP00000269197.4:p.Thr1538_Phe1539del
NM_030632.1:c.4613_4618del	NP_085135.1:p.Thr1538_Phe1539del
XM_005258356.1:c.4616_4621del	XP_005258413.1:p.Thr1539_Phe1540del
XM_011526205.1:c.4589_4594del	XP_011524507.1:p.Thr1530_Phe1531del
XM_011526206.1:c.4535_4540del	XP_011524508.1:p.Thr1512_Phe1513del
XM_011526207.1:c.4535_4540del	XP_011524509.1:p.Thr1512_Phe1513del
XM_011526208.1:c.4496_4501del	XP_011524510.1:p.Thr1499_Phe1500del
XM_011526209.1:c.4445_4450del	XP_011524511.1:p.Thr1482_Phe1483del
XM_011526210.1:c.4445_4450del	XP_011524512.1:p.Thr1482_Phe1483del
XM_011526211.1:c.4445_4450del	XP_011524513.1:p.Thr1482_Phe1483del
XM_011526212.1:c.4445_4450del	XP_011524514.1:p.Thr1482_Phe1483del
XM_011526213.1:c.4445_4450del	XP_011524515.1:p.Thr1482_Phe1483del
XM_011526214.1:c.4445_4450del	XP_011524516.1:p.Thr1482_Phe1483del
XM_011526215.1:c.1577_1582del	XP_011524517.1:p.Thr526_Phe527del
NM_030632.2:c.4613_4618del	NP_085135.1:p.Thr1538_Phe1539del
XM_011526205.2:c.4589_4594del	XP_011524507.1:p.Thr1530_Phe1531del
XM_011526206.2:c.4535_4540del	XP_011524508.1:p.Thr1512_Phe1513del
XM_011526213.2:c.4445_4450del	XP_011524515.1:p.Thr1482_Phe1483del
XM_017026012.1:c.4535_4540del	XP_016881501.1:p.Thr1512_Phe1513del
XM_017026013.1:c.4445_4450del	XP_016881502.1:p.Thr1482_Phe1483del
XM_017026014.2:c.4445_4450del	XP_016881503.1:p.Thr1482_Phe1483del
XM_024451269.1:c.4445_4450del	XP_024307037.1:p.Thr1482_Phe1483del
NM_030632.3:c.4613_4618del MANE Select	NP_085135.1:p.Thr1538_Phe1539del