Canonical Allele Identifier: CA781029989

Gene: CCBE1

Linked Data

• dbSNP Id: rs1330064138
• gnomAD v3: 18-59647496-TTTTGTAATCAGAC-T
• gnomAD v4: 18-59647496-TTTTGTAATCAGAC-T
• MyVariant Identifiers: chr18:g.57314729_57314741del (hg19) ; chr18:g.59647497_59647509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647507_59647519del , CM000680.2:g.59647507_59647519del	GRCh38
NC_000018.9:g.57314739_57314751del , CM000680.1:g.57314739_57314751del	GRCh37
NC_000018.8:g.55465719_55465731del	NCBI36
NG_016990.1:g.54904_54916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18567_215+18579del
ENST00000650467.2:c.212+49120_212+49132del	ENSP00000496897.2:n.212+49120_212+49132de...
ENST00000695903.1:c.212+49120_212+49132del	ENSP00000512255.1:n.212+49120_212+49132de...
ENST00000695904.1:c.212+49120_212+49132del	ENSP00000512259.1:n.212+49120_212+49132de...
ENST00000439986.9:c.212+49120_212+49132del MANE Select	ENSP00000404464.2:n.212+49120_212+49132de...
ENST00000649564.1:c.212+49120_212+49132del	ENSP00000497183.1:n.212+49120_212+49132de...
ENST00000650467.1:c.90+49120_90+49132del
ENST00000439986.8:c.212+49120_212+49132del	ENSP00000404464.2:n.212+49120_212+49132de...
ENST00000589419.1:c.-362+18567_-362+18579del	ENSP00000467710.1:n.-362+18567_-362+18579...
NM_133459.3:c.212+49120_212+49132del	NP_597716.1:n.212+49120_212+49132del
XM_005266648.2:c.212+49120_212+49132del	XP_005266705.1:n.212+49120_212+49132del
NM_133459.4:c.212+49120_212+49132del MANE Select	NP_597716.1:n.212+49120_212+49132del
XM_017025556.1:c.212+49120_212+49132del	XP_016881045.1:n.212+49120_212+49132del
XM_017025557.1:c.212+49120_212+49132del	XP_016881046.1:n.212+49120_212+49132del
XM_017025558.1:c.212+49120_212+49132del	XP_016881047.1:n.212+49120_212+49132del
XM_024451091.1:c.212+49120_212+49132del	XP_024306859.1:n.212+49120_212+49132del
XR_001753142.1:n.1051+49120_1051+49132del