Canonical Allele Identifier: CA620714459

Gene: CREBBP

Linked Data

• dbSNP Id: rs1384374768
• gnomAD v2: 16-3780074-GGGATGGGATCATGGACA-G
• gnomAD v3: 16-3730073-GGGATGGGATCATGGACA-G
• gnomAD v4: 16-3730073-GGGATGGGATCATGGACA-G
• MyVariant Identifiers: chr16:g.3780075_3780091del (hg19) ; chr16:g.3730074_3730090del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730074_3730090del , CM000678.2:g.3730074_3730090del	GRCh38
NC_000016.9:g.3780075_3780091del , CM000678.1:g.3780075_3780091del	GRCh37
NC_000016.8:g.3720076_3720092del	NCBI36
NG_009873.1:g.155031_155047del
NG_009873.2:g.155624_155640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-216_5173-200del MANE Select	ENSP00000262367.5:n.5173-216_5173-200del
ENST00000262367.9:c.5173-216_5173-200del	ENSP00000262367.5:n.5173-216_5173-200del
ENST00000382070.7:c.5059-216_5059-200del	ENSP00000371502.3:n.5059-216_5059-200del
NM_001079846.1:c.5059-216_5059-200del	NP_001073315.1:n.5059-216_5059-200del
NM_004380.2:c.5173-216_5173-200del	NP_004371.2:n.5173-216_5173-200del
XM_005255124.3:c.5128-216_5128-200del	XP_005255181.1:n.5128-216_5128-200del
XM_005255125.3:c.4756-216_4756-200del	XP_005255182.1:n.4756-216_4756-200del
XM_006720848.2:c.4912-216_4912-200del	XP_006720911.1:n.4912-216_4912-200del
XM_011522380.1:c.5119-216_5119-200del	XP_011520682.1:n.5119-216_5119-200del
XM_011522381.1:c.4420-216_4420-200del	XP_011520683.1:n.4420-216_4420-200del
XM_005255124.4:c.5128-216_5128-200del	XP_005255181.1:n.5128-216_5128-200del
XM_005255125.4:c.4756-216_4756-200del	XP_005255182.1:n.4756-216_4756-200del
XM_006720848.3:c.4912-216_4912-200del	XP_006720911.1:n.4912-216_4912-200del
XM_011522381.2:c.4420-216_4420-200del	XP_011520683.1:n.4420-216_4420-200del
XM_017022944.1:c.5167-216_5167-200del	XP_016878433.1:n.5167-216_5167-200del
NM_004380.3:c.5173-216_5173-200del MANE Select	NP_004371.2:n.5173-216_5173-200del