Canonical Allele Identifier: CA276979797

Gene: CREBBP

Linked Data

• dbSNP Id: rs547864843
• gnomAD v2: 16-3786369-CCCA-C
• gnomAD v3: 16-3736368-CCCA-C
• gnomAD v4: 16-3736368-CCCA-C
• MyVariant Identifiers: chr16:g.3786370_3786372del (hg19) ; chr16:g.3736369_3736371del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736373_3736375del , CM000678.2:g.3736373_3736375del	GRCh38
NC_000016.9:g.3786374_3786376del , CM000678.1:g.3786374_3786376del	GRCh37
NC_000016.8:g.3726375_3726377del	NCBI36
NG_009873.1:g.148750_148752del
NG_009873.2:g.149343_149345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-168_4561-166del MANE Select	ENSP00000262367.5:n.4561-168_4561-166del
ENST00000262367.9:c.4561-168_4561-166del	ENSP00000262367.5:n.4561-168_4561-166del
ENST00000382070.7:c.4447-168_4447-166del	ENSP00000371502.3:n.4447-168_4447-166del
ENST00000570939.2:c.3196-168_3196-166del	ENSP00000461002.2:n.3196-168_3196-166del
ENST00000571763.5:n.351-168_351-166del
ENST00000576720.1:n.3384-168_3384-166del
NM_001079846.1:c.4447-168_4447-166del	NP_001073315.1:n.4447-168_4447-166del
NM_004380.2:c.4561-168_4561-166del	NP_004371.2:n.4561-168_4561-166del
XM_005255124.3:c.4516-168_4516-166del	XP_005255181.1:n.4516-168_4516-166del
XM_005255125.3:c.4144-168_4144-166del	XP_005255182.1:n.4144-168_4144-166del
XM_006720848.2:c.4300-168_4300-166del	XP_006720911.1:n.4300-168_4300-166del
XM_011522380.1:c.4507-168_4507-166del	XP_011520682.1:n.4507-168_4507-166del
XM_011522381.1:c.3808-168_3808-166del	XP_011520683.1:n.3808-168_3808-166del
XM_005255124.4:c.4516-168_4516-166del	XP_005255181.1:n.4516-168_4516-166del
XM_005255125.4:c.4144-168_4144-166del	XP_005255182.1:n.4144-168_4144-166del
XM_006720848.3:c.4300-168_4300-166del	XP_006720911.1:n.4300-168_4300-166del
XM_011522381.2:c.3808-168_3808-166del	XP_011520683.1:n.3808-168_3808-166del
XM_017022944.1:c.4555-168_4555-166del	XP_016878433.1:n.4555-168_4555-166del
NM_004380.3:c.4561-168_4561-166del MANE Select	NP_004371.2:n.4561-168_4561-166del