Canonical Allele Identifier: CA2195297222

Gene: BLM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90794076_90794077delinsTA , CM000677.2:g.90794076_90794077delinsTA	GRCh38
NC_000015.9:g.91337306_91337307delinsTA , CM000677.1:g.91337306_91337307delinsTA	GRCh37
NC_000015.8:g.89138310_89138311delinsTA	NCBI36
NG_007272.1:g.81705_81706delinsTA , LRG_20:g.81705_81706delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3020-91_3020-90delinsTA MANE Select	ENSP00000347232.3:n.3020-91_3020-90delinsTA
ENST00000560559.2:n.1593-91_1593-90delinsTA
ENST00000648453.1:c.3020-91_3020-90delinsTA	ENSP00000497646.1:n.3020-91_3020-90delinsTA
ENST00000680772.1:c.3020-91_3020-90delinsTA	ENSP00000506117.1:n.3020-91_3020-90delinsTA
ENST00000681142.1:c.3020-91_3020-90delinsTA	ENSP00000506682.1:n.3020-91_3020-90delinsTA
ENST00000355112.7:c.3020-91_3020-90delinsTA	ENSP00000347232.3:n.3020-91_3020-90delinsTA
ENST00000558825.5:n.276_277delinsTA
ENST00000559724.5:c.*1944-91_*1944-90delinsTA	ENSP00000453359.1:n.*1944-91_*1944-90delinsTA
ENST00000560136.5:n.1046-91_1046-90delinsTA
ENST00000560509.5:c.3020-91_3020-90delinsTA	ENSP00000454158.1:n.3020-91_3020-90delinsTA
ENST00000560559.1:n.557-91_557-90delinsTA
NM_000057.3:c.3020-91_3020-90delinsTA	NP_000048.1:n.3020-91_3020-90delinsTA
NM_001287246.1:c.3020-91_3020-90delinsTA	NP_001274175.1:n.3020-91_3020-90delinsTA
NM_001287247.1:c.3020-91_3020-90delinsTA	NP_001274176.1:n.3020-91_3020-90delinsTA
NM_001287248.1:c.1895-91_1895-90delinsTA	NP_001274177.1:n.1895-91_1895-90delinsTA
XM_006720632.2:c.1058-91_1058-90delinsTA	XP_006720695.1:n.1058-91_1058-90delinsTA
XM_011521881.1:c.1706-91_1706-90delinsTA	XP_011520183.1:n.1706-91_1706-90delinsTA
XM_011521881.2:c.1706-91_1706-90delinsTA	XP_011520183.1:n.1706-91_1706-90delinsTA
NM_000057.4:c.3020-91_3020-90delinsTA MANE Select	NP_000048.1:n.3020-91_3020-90delinsTA
NM_001287246.2:c.3020-91_3020-90delinsTA	NP_001274175.1:n.3020-91_3020-90delinsTA
NM_001287247.2:c.3020-91_3020-90delinsTA	NP_001274176.1:n.3020-91_3020-90delinsTA
NM_001287248.2:c.1895-91_1895-90delinsTA	NP_001274177.1:n.1895-91_1895-90delinsTA