Canonical Allele Identifier: CA720710645

Gene: CREBBP

Linked Data

• dbSNP Id: rs1331759854
• gnomAD v4: 16-3778086-CCAAGAT-C
• MyVariant Identifiers: chr16:g.3828088_3828093del (hg19) ; chr16:g.3778087_3778092del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778087_3778092del , CM000678.2:g.3778087_3778092del	GRCh38
NC_000016.9:g.3828088_3828093del , CM000678.1:g.3828088_3828093del	GRCh37
NC_000016.8:g.3768089_3768094del	NCBI36
NG_009873.1:g.107029_107034del
NG_009873.2:g.107622_107627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2032_2037del MANE Select	ENSP00000262367.5:p.Ile678_Leu679del
ENST00000262367.9:c.2032_2037del	ENSP00000262367.5:p.Ile678_Leu679del
ENST00000382070.7:c.1918_1923del	ENSP00000371502.3:p.Ile640_Leu641del
ENST00000570939.2:c.637_642del	ENSP00000461002.2:p.Ile213_Leu214del
ENST00000571826.5:c.81_86del
ENST00000572134.1:c.345_350del
ENST00000634839.1:n.194_199del
NM_001079846.1:c.1918_1923del	NP_001073315.1:p.Ile640_Leu641del
NM_004380.2:c.2032_2037del	NP_004371.2:p.Ile678_Leu679del
XM_005255124.3:c.2032_2037del	XP_005255181.1:p.Ile678_Leu679del
XM_005255125.3:c.2032_2037del	XP_005255182.1:p.Ile678_Leu679del
XM_006720848.2:c.2032_2037del	XP_006720911.1:p.Ile678_Leu679del
XM_011522380.1:c.1978_1983del	XP_011520682.1:p.Ile660_Leu661del
XM_011522381.1:c.1279_1284del	XP_011520683.1:p.Ile427_Leu428del
XM_011522382.1:c.2032_2037del	XP_011520684.1:p.Ile678_Leu679del
XM_005255124.4:c.2032_2037del	XP_005255181.1:p.Ile678_Leu679del
XM_005255125.4:c.2032_2037del	XP_005255182.1:p.Ile678_Leu679del
XM_006720848.3:c.2032_2037del	XP_006720911.1:p.Ile678_Leu679del
XM_011522381.2:c.1279_1284del	XP_011520683.1:p.Ile427_Leu428del
XM_011522382.3:c.2032_2037del	XP_011520684.1:p.Ile678_Leu679del
XM_017022944.1:c.2032_2037del	XP_016878433.1:p.Ile678_Leu679del
NM_004380.3:c.2032_2037del MANE Select	NP_004371.2:p.Ile678_Leu679del