Canonical Allele Identifier: CA271438

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 158396
• ClinVar RCV Id: RCV000145777
• dbSNP Id: rs587783511
• MyVariant Identifiers: chr16:g.3778877_3778918del (hg19) ; chr16:g.3728876_3728917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728881_3728922del , CM000678.2:g.3728881_3728922del	GRCh38
NC_000016.9:g.3778882_3778923del , CM000678.1:g.3778882_3778923del	GRCh37
NC_000016.8:g.3718883_3718924del	NCBI36
NG_009873.1:g.156204_156245del
NG_009873.2:g.156797_156838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6130_6171del MANE Select	ENSP00000262367.5:p.Ala2044_Gln2057del
ENST00000262367.9:c.6130_6171del	ENSP00000262367.5:p.Ala2044_Gln2057del
ENST00000382070.7:c.6016_6057del	ENSP00000371502.3:p.Ala2006_Gln2019del
NM_001079846.1:c.6016_6057del	NP_001073315.1:p.Ala2006_Gln2019del
NM_004380.2:c.6130_6171del	NP_004371.2:p.Ala2044_Gln2057del
XM_005255124.3:c.6085_6126del	XP_005255181.1:p.Ala2029_Gln2042del
XM_005255125.3:c.5713_5754del	XP_005255182.1:p.Ala1905_Gln1918del
XM_006720848.2:c.5869_5910del	XP_006720911.1:p.Ala1957_Gln1970del
XM_011522380.1:c.6076_6117del	XP_011520682.1:p.Ala2026_Gln2039del
XM_011522381.1:c.5377_5418del	XP_011520683.1:p.Ala1793_Gln1806del
XM_005255124.4:c.6085_6126del	XP_005255181.1:p.Ala2029_Gln2042del
XM_005255125.4:c.5713_5754del	XP_005255182.1:p.Ala1905_Gln1918del
XM_006720848.3:c.5869_5910del	XP_006720911.1:p.Ala1957_Gln1970del
XM_011522381.2:c.5377_5418del	XP_011520683.1:p.Ala1793_Gln1806del
XM_017022944.1:c.6124_6165del	XP_016878433.1:p.Ala2042_Gln2055del
NM_004380.3:c.6130_6171del MANE Select	NP_004371.2:p.Ala2044_Gln2057del