Canonical Allele Identifier: CA990849975

Gene: CCBE1

Linked Data

• gnomAD v3: 18-59647606-T-TTTA
• gnomAD v4: 18-59647606-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647606_59647607insTTA , CM000680.2:g.59647606_59647607insTTA	GRCh38
NC_000018.9:g.57314838_57314839insTTA , CM000680.1:g.57314838_57314839insTTA	GRCh37
NC_000018.8:g.55465818_55465819insTTA	NCBI36
NG_016990.1:g.54806_54807insTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18469_215+18470insTAA
ENST00000650467.2:c.212+49022_212+49023insTAA	ENSP00000496897.2:n.212+49022_212+49023in...
ENST00000695903.1:c.212+49022_212+49023insTAA	ENSP00000512255.1:n.212+49022_212+49023in...
ENST00000695904.1:c.212+49022_212+49023insTAA	ENSP00000512259.1:n.212+49022_212+49023in...
ENST00000439986.9:c.212+49022_212+49023insTAA MANE Select	ENSP00000404464.2:n.212+49022_212+49023in...
ENST00000649564.1:c.212+49022_212+49023insTAA	ENSP00000497183.1:n.212+49022_212+49023in...
ENST00000650467.1:c.90+49022_90+49023insTAA
ENST00000439986.8:c.212+49022_212+49023insTAA	ENSP00000404464.2:n.212+49022_212+49023in...
ENST00000589419.1:c.-362+18469_-362+18470insTAA	ENSP00000467710.1:n.-362+18469_-362+18470...
NM_133459.3:c.212+49022_212+49023insTAA	NP_597716.1:n.212+49022_212+49023insTAA
XM_005266648.2:c.212+49022_212+49023insTAA	XP_005266705.1:n.212+49022_212+49023insTA...
NM_133459.4:c.212+49022_212+49023insTAA MANE Select	NP_597716.1:n.212+49022_212+49023insTAA
XM_017025556.1:c.212+49022_212+49023insTAA	XP_016881045.1:n.212+49022_212+49023insTA...
XM_017025557.1:c.212+49022_212+49023insTAA	XP_016881046.1:n.212+49022_212+49023insTA...
XM_017025558.1:c.212+49022_212+49023insTAA	XP_016881047.1:n.212+49022_212+49023insTA...
XM_024451091.1:c.212+49022_212+49023insTAA	XP_024306859.1:n.212+49022_212+49023insTA...
XR_001753142.1:n.1051+49022_1051+49023insTAA