Canonical Allele Identifier: CA2307017161

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647584_59647587delinsAAAG , CM000680.2:g.59647584_59647587delinsAAAG	GRCh38
NC_000018.9:g.57314816_57314819delinsAAAG , CM000680.1:g.57314816_57314819delinsAAAG	GRCh37
NC_000018.8:g.55465796_55465799delinsAAAG	NCBI36
NG_016990.1:g.54826_54829delinsCTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18489_215+18492delinsCTTT
ENST00000650467.2:c.212+49042_212+49045delinsCTTT	ENSP00000496897.2:n.212+49042_212+49045de...
ENST00000695903.1:c.212+49042_212+49045delinsCTTT	ENSP00000512255.1:n.212+49042_212+49045de...
ENST00000695904.1:c.212+49042_212+49045delinsCTTT	ENSP00000512259.1:n.212+49042_212+49045de...
ENST00000439986.9:c.212+49042_212+49045delinsCTTT MANE Select	ENSP00000404464.2:n.212+49042_212+49045de...
ENST00000649564.1:c.212+49042_212+49045delinsCTTT	ENSP00000497183.1:n.212+49042_212+49045de...
ENST00000650467.1:c.90+49042_90+49045delinsCTTT
ENST00000439986.8:c.212+49042_212+49045delinsCTTT	ENSP00000404464.2:n.212+49042_212+49045de...
ENST00000589419.1:c.-362+18489_-362+18492delinsCTTT	ENSP00000467710.1:n.-362+18489_-362+18492...
NM_133459.3:c.212+49042_212+49045delinsCTTT	NP_597716.1:n.212+49042_212+49045delinsCT...
XM_005266648.2:c.212+49042_212+49045delinsCTTT	XP_005266705.1:n.212+49042_212+49045delin...
NM_133459.4:c.212+49042_212+49045delinsCTTT MANE Select	NP_597716.1:n.212+49042_212+49045delinsCT...
XM_017025556.1:c.212+49042_212+49045delinsCTTT	XP_016881045.1:n.212+49042_212+49045delin...
XM_017025557.1:c.212+49042_212+49045delinsCTTT	XP_016881046.1:n.212+49042_212+49045delin...
XM_017025558.1:c.212+49042_212+49045delinsCTTT	XP_016881047.1:n.212+49042_212+49045delin...
XM_024451091.1:c.212+49042_212+49045delinsCTTT	XP_024306859.1:n.212+49042_212+49045delin...
XR_001753142.1:n.1051+49042_1051+49045delinsCTTT