Canonical Allele Identifier: CA620714723

Gene: CREBBP

Linked Data

• dbSNP Id: rs1391436807
• gnomAD v2: 16-3860779-ATCTG-A
• gnomAD v4: 16-3810778-ATCTG-A
• MyVariant Identifiers: chr16:g.3860780_3860783del (hg19) ; chr16:g.3810779_3810782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810779_3810782del , CM000678.2:g.3810779_3810782del	GRCh38
NC_000016.9:g.3860780_3860783del , CM000678.1:g.3860780_3860783del	GRCh37
NC_000016.8:g.3800781_3800784del	NCBI36
NG_009873.1:g.74339_74342del
NG_009873.2:g.74932_74935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-3_799del
ENST00000635899.1:n.41-3_41del
ENST00000262367.9:c.799-3_799del
ENST00000382070.7:c.799-3_799del
NM_001079846.1:c.799-3_799del
NM_004380.2:c.799-3_799del
XM_005255124.3:c.799-3_799del
XM_005255125.3:c.799-3_799del
XM_006720848.2:c.799-3_799del
XM_011522380.1:c.745-3_745del
XM_011522381.1:c.46-3_46del
XM_011522382.1:c.799-3_799del
XM_005255124.4:c.799-3_799del
XM_005255125.4:c.799-3_799del
XM_006720848.3:c.799-3_799del
XM_011522381.2:c.46-3_46del
XM_011522382.3:c.799-3_799del
XM_017022944.1:c.799-3_799del
NM_004380.3:c.799-3_799del