Canonical Allele Identifier: CA2579143899

Gene: ASH2L

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138819del , CM000670.2:g.38138819del	GRCh38
NC_000008.10:g.37996337del , CM000670.1:g.37996337del	GRCh37
NC_000008.9:g.38115494del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1723del MANE Select	ENSP00000340896.5:p.Ser575ProfsTer20
ENST00000343823.10:c.1723del	ENSP00000340896.5:p.Ser575ProfsTer20
ENST00000428278.6:c.1441del	ENSP00000395310.2:p.Ser481ProfsTer20
ENST00000517496.5:c.*1211del	ENSP00000430889.1:n.*1211del
ENST00000520079.1:n.1325del
ENST00000521652.5:c.1342del	ENSP00000430259.1:p.Ser448ProfsTer20
ENST00000521808.5:c.107del
ENST00000524247.5:c.509del
ENST00000545394.2:c.1306del	ENSP00000443606.1:p.Ser436ProfsTer20
NM_001105214.2:c.1441del	NP_001098684.1:p.Ser481ProfsTer20
NM_001261832.1:c.1342del	NP_001248761.1:p.Ser448ProfsTer20
NM_001282272.1:c.1306del	NP_001269201.1:p.Ser436ProfsTer20
NM_004674.4:c.1723del	NP_004665.2:p.Ser575ProfsTer20
XM_005273682.1:c.1741del	XP_005273739.1:p.Ser581ProfsTer20
XM_005273683.1:c.1459del	XP_005273740.1:p.Ser487ProfsTer20
XM_006716412.1:c.1642del	XP_006716475.1:p.Ser548ProfsTer20
XM_006716413.1:c.1624del	XP_006716476.1:p.Ser542ProfsTer20
XM_006716413.3:c.1624del	XP_006716476.1:p.Ser542ProfsTer20
NM_004674.5:c.1723del MANE Select	NP_004665.2:p.Ser575ProfsTer20