Canonical Allele Identifier: CA781030015

Gene: CCBE1

Linked Data

• dbSNP Id: rs1279951149
• gnomAD v3: 18-59647584-AAAG-A
• gnomAD v4: 18-59647584-AAAG-A
• MyVariant Identifiers: chr18:g.57314817_57314819del (hg19) ; chr18:g.59647585_59647587del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647587_59647589del , CM000680.2:g.59647587_59647589del	GRCh38
NC_000018.9:g.57314819_57314821del , CM000680.1:g.57314819_57314821del	GRCh37
NC_000018.8:g.55465799_55465801del	NCBI36
NG_016990.1:g.54826_54828del

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18489_215+18491del
ENST00000650467.2:c.212+49042_212+49044del	ENSP00000496897.2:n.212+49042_212+49044de...
ENST00000695903.1:c.212+49042_212+49044del	ENSP00000512255.1:n.212+49042_212+49044de...
ENST00000695904.1:c.212+49042_212+49044del	ENSP00000512259.1:n.212+49042_212+49044de...
ENST00000439986.9:c.212+49042_212+49044del MANE Select	ENSP00000404464.2:n.212+49042_212+49044de...
ENST00000649564.1:c.212+49042_212+49044del	ENSP00000497183.1:n.212+49042_212+49044de...
ENST00000650467.1:c.90+49042_90+49044del
ENST00000439986.8:c.212+49042_212+49044del	ENSP00000404464.2:n.212+49042_212+49044de...
ENST00000589419.1:c.-362+18489_-362+18491del	ENSP00000467710.1:n.-362+18489_-362+18491...
NM_133459.3:c.212+49042_212+49044del	NP_597716.1:n.212+49042_212+49044del
XM_005266648.2:c.212+49042_212+49044del	XP_005266705.1:n.212+49042_212+49044del
NM_133459.4:c.212+49042_212+49044del MANE Select	NP_597716.1:n.212+49042_212+49044del
XM_017025556.1:c.212+49042_212+49044del	XP_016881045.1:n.212+49042_212+49044del
XM_017025557.1:c.212+49042_212+49044del	XP_016881046.1:n.212+49042_212+49044del
XM_017025558.1:c.212+49042_212+49044del	XP_016881047.1:n.212+49042_212+49044del
XM_024451091.1:c.212+49042_212+49044del	XP_024306859.1:n.212+49042_212+49044del
XR_001753142.1:n.1051+49042_1051+49044del