Canonical Allele Identifier: CA720725024

Gene: CREBBP

Linked Data

• dbSNP Id: rs1200702243
• gnomAD v3: 16-3736357-CAT-C
• gnomAD v4: 16-3736357-CAT-C
• MyVariant Identifiers: chr16:g.3786359_3786360del (hg19) ; chr16:g.3736358_3736359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736358_3736359del , CM000678.2:g.3736358_3736359del	GRCh38
NC_000016.9:g.3786359_3786360del , CM000678.1:g.3786359_3786360del	GRCh37
NC_000016.8:g.3726360_3726361del	NCBI36
NG_009873.1:g.148762_148763del
NG_009873.2:g.149355_149356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-156_4561-155del MANE Select	ENSP00000262367.5:n.4561-156_4561-155del
ENST00000262367.9:c.4561-156_4561-155del	ENSP00000262367.5:n.4561-156_4561-155del
ENST00000382070.7:c.4447-156_4447-155del	ENSP00000371502.3:n.4447-156_4447-155del
ENST00000570939.2:c.3196-156_3196-155del	ENSP00000461002.2:n.3196-156_3196-155del
ENST00000571763.5:n.351-156_351-155del
ENST00000576720.1:n.3384-156_3384-155del
NM_001079846.1:c.4447-156_4447-155del	NP_001073315.1:n.4447-156_4447-155del
NM_004380.2:c.4561-156_4561-155del	NP_004371.2:n.4561-156_4561-155del
XM_005255124.3:c.4516-156_4516-155del	XP_005255181.1:n.4516-156_4516-155del
XM_005255125.3:c.4144-156_4144-155del	XP_005255182.1:n.4144-156_4144-155del
XM_006720848.2:c.4300-156_4300-155del	XP_006720911.1:n.4300-156_4300-155del
XM_011522380.1:c.4507-156_4507-155del	XP_011520682.1:n.4507-156_4507-155del
XM_011522381.1:c.3808-156_3808-155del	XP_011520683.1:n.3808-156_3808-155del
XM_005255124.4:c.4516-156_4516-155del	XP_005255181.1:n.4516-156_4516-155del
XM_005255125.4:c.4144-156_4144-155del	XP_005255182.1:n.4144-156_4144-155del
XM_006720848.3:c.4300-156_4300-155del	XP_006720911.1:n.4300-156_4300-155del
XM_011522381.2:c.3808-156_3808-155del	XP_011520683.1:n.3808-156_3808-155del
XM_017022944.1:c.4555-156_4555-155del	XP_016878433.1:n.4555-156_4555-155del
NM_004380.3:c.4561-156_4561-155del MANE Select	NP_004371.2:n.4561-156_4561-155del