Canonical Allele Identifier: CA2195282950

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90766923_90766929delinsATCTGAC , CM000677.2:g.90766923_90766929delinsATCTGAC	GRCh38
NC_000015.9:g.91310153_91310159delinsATCTGAC , CM000677.1:g.91310153_91310159delinsATCTGAC	GRCh37
NC_000015.8:g.89111157_89111163delinsATCTGAC	NCBI36
NG_007272.1:g.54552_54558delinsATCTGAC , LRG_20:g.54552_54558delinsATCTGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000355112.8:c.2207_2213delinsATCTGAC MANE Select	ENSP00000347232.3:p.Tyr736=
ENST00000648453.1:c.2207_2213delinsATCTGAC	ENSP00000497646.1:p.Tyr736=
ENST00000680772.1:c.2207_2213delinsATCTGAC	ENSP00000506117.1:p.Tyr736=
ENST00000681142.1:c.2207_2213delinsATCTGAC	ENSP00000506682.1:p.Tyr736=
ENST00000355112.7:c.2207_2213delinsATCTGAC	ENSP00000347232.3:p.Tyr736=
ENST00000559426.5:n.384_390delinsATCTGAC
ENST00000559724.5:c.*1131_*1137delinsATCTGAC	ENSP00000453359.1:n.*1131_*1137delinsATCT...
ENST00000560136.5:n.233_239delinsATCTGAC
ENST00000560509.5:c.2207_2213delinsATCTGAC	ENSP00000454158.1:p.Tyr736=
NM_000057.3:c.2207_2213delinsATCTGAC	NP_000048.1:p.Tyr736=
NM_001287246.1:c.2207_2213delinsATCTGAC	NP_001274175.1:p.Tyr736=
NM_001287247.1:c.2207_2213delinsATCTGAC	NP_001274176.1:p.Tyr736=
NM_001287248.1:c.1082_1088delinsATCTGAC	NP_001274177.1:p.Tyr361=
XM_006720632.2:c.245_251delinsATCTGAC	XP_006720695.1:p.Tyr82=
XM_011521881.1:c.893_899delinsATCTGAC	XP_011520183.1:p.Tyr298=
XM_011521882.1:c.2207_2213delinsATCTGAC	XP_011520184.1:p.Tyr736=
XM_011521881.2:c.893_899delinsATCTGAC	XP_011520183.1:p.Tyr298=
XM_011521882.3:c.2207_2213delinsATCTGAC	XP_011520184.1:p.Tyr736=
NM_000057.4:c.2207_2213delinsATCTGAC MANE Select	NP_000048.1:p.Tyr736=
NM_001287246.2:c.2207_2213delinsATCTGAC	NP_001274175.1:p.Tyr736=
NM_001287247.2:c.2207_2213delinsATCTGAC	NP_001274176.1:p.Tyr736=
NM_001287248.2:c.1082_1088delinsATCTGAC	NP_001274177.1:p.Tyr361=