Canonical Allele Identifier: CA2195295807

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90790804_90790805delinsTA , CM000677.2:g.90790804_90790805delinsTA	GRCh38
NC_000015.9:g.91334034_91334035delinsTA , CM000677.1:g.91334034_91334035delinsTA	GRCh37
NC_000015.8:g.89135038_89135039delinsTA	NCBI36
NG_007272.1:g.78433_78434delinsTA , LRG_20:g.78433_78434delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.2979_2980delinsTA MANE Select	ENSP00000347232.3:p.Tyr993=
ENST00000560559.2:n.1552_1553delinsTA
ENST00000648453.1:c.2979_2980delinsTA	ENSP00000497646.1:p.Tyr993=
ENST00000680772.1:c.2979_2980delinsTA	ENSP00000506117.1:p.Tyr993=
ENST00000681142.1:c.2979_2980delinsTA	ENSP00000506682.1:p.Tyr993=
ENST00000355112.7:c.2979_2980delinsTA	ENSP00000347232.3:p.Tyr993=
ENST00000559724.5:c.*1903_*1904delinsTA	ENSP00000453359.1:n.*1903_*1904delinsTA
ENST00000560136.5:n.1005_1006delinsTA
ENST00000560509.5:c.2979_2980delinsTA	ENSP00000454158.1:p.Tyr993=
ENST00000560559.1:n.516_517delinsTA
NM_000057.3:c.2979_2980delinsTA	NP_000048.1:p.Tyr993=
NM_001287246.1:c.2979_2980delinsTA	NP_001274175.1:p.Tyr993=
NM_001287247.1:c.2979_2980delinsTA	NP_001274176.1:p.Tyr993=
NM_001287248.1:c.1854_1855delinsTA	NP_001274177.1:p.Tyr618=
XM_006720632.2:c.1017_1018delinsTA	XP_006720695.1:p.Tyr339=
XM_011521881.1:c.1665_1666delinsTA	XP_011520183.1:p.Tyr555=
XM_011521881.2:c.1665_1666delinsTA	XP_011520183.1:p.Tyr555=
NM_000057.4:c.2979_2980delinsTA MANE Select	NP_000048.1:p.Tyr993=
NM_001287246.2:c.2979_2980delinsTA	NP_001274175.1:p.Tyr993=
NM_001287247.2:c.2979_2980delinsTA	NP_001274176.1:p.Tyr993=
NM_001287248.2:c.1854_1855delinsTA	NP_001274177.1:p.Tyr618=