Canonical Allele Identifier: CA1905675930

Gene: BMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.42798136_42798138delinsCTT , CM000672.2:g.42798136_42798138delinsCTT	GRCh38
NC_000010.10:g.43293584_43293586delinsCTT , CM000672.1:g.43293584_43293586delinsCTT	GRCh37
NC_000010.9:g.42613590_42613592delinsCTT	NCBI36
NG_046921.1:g.20631_20633delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374518.6:c.2090-332_2090-330delinsCTT MANE Select	ENSP00000363642.4:n.2090-332_2090-330delinsCTT
ENST00000374518.5:c.2090-332_2090-330delinsCTT	ENSP00000363642.4:n.2090-332_2090-330delinsCTT
NM_014753.3:c.2090-332_2090-330delinsCTT	NP_055568.3:n.2090-332_2090-330delinsCTT
XM_005271846.2:c.2090-332_2090-330delinsCTT	XP_005271903.1:n.2090-332_2090-330delinsCTT
XM_005271847.2:c.1901-332_1901-330delinsCTT	XP_005271904.1:n.1901-332_1901-330delinsCTT
XM_005271848.2:c.2090-332_2090-330delinsCTT	XP_005271905.1:n.2090-332_2090-330delinsCTT
XM_005271849.2:c.2090-332_2090-330delinsCTT	XP_005271906.1:n.2090-332_2090-330delinsCTT
XM_006718081.2:c.2090-332_2090-330delinsCTT	XP_006718144.1:n.2090-332_2090-330delinsCTT
XM_011540402.1:c.2090-332_2090-330delinsCTT	XP_011538704.1:n.2090-332_2090-330delinsCTT
XM_011540403.1:c.857-332_857-330delinsCTT	XP_011538705.1:n.857-332_857-330delinsCTT
XR_246522.1:n.2179-332_2179-330delinsCTT
XR_428728.2:n.2179-332_2179-330delinsCTT
XM_005271846.3:c.2090-332_2090-330delinsCTT	XP_005271903.1:n.2090-332_2090-330delinsCTT
XM_005271848.3:c.2090-332_2090-330delinsCTT	XP_005271905.1:n.2090-332_2090-330delinsCTT
XM_011540402.2:c.2090-332_2090-330delinsCTT	XP_011538704.1:n.2090-332_2090-330delinsCTT
XM_011540403.2:c.857-332_857-330delinsCTT	XP_011538705.1:n.857-332_857-330delinsCTT
XR_001747266.1:n.2179-332_2179-330delinsCTT
XR_002957049.1:n.2179-332_2179-330delinsCTT
NM_014753.4:c.2090-332_2090-330delinsCTT MANE Select	NP_055568.3:n.2090-332_2090-330delinsCTT