Canonical Allele Identifier: CA720724967

Gene: CREBBP

Linked Data

• dbSNP Id: rs1491519490
• gnomAD v4: 16-3736324-TGC-T
• MyVariant Identifiers: chr16:g.3786326_3786327del (hg19) ; chr16:g.3736325_3736326del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736325_3736326del , CM000678.2:g.3736325_3736326del	GRCh38
NC_000016.9:g.3786326_3786327del , CM000678.1:g.3786326_3786327del	GRCh37
NC_000016.8:g.3726327_3726328del	NCBI36
NG_009873.1:g.148795_148796del
NG_009873.2:g.149388_149389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-123_4561-122del MANE Select	ENSP00000262367.5:n.4561-123_4561-122del
ENST00000262367.9:c.4561-123_4561-122del	ENSP00000262367.5:n.4561-123_4561-122del
ENST00000382070.7:c.4447-123_4447-122del	ENSP00000371502.3:n.4447-123_4447-122del
ENST00000570939.2:c.3196-123_3196-122del	ENSP00000461002.2:n.3196-123_3196-122del
ENST00000571763.5:n.351-123_351-122del
ENST00000576720.1:n.3384-123_3384-122del
NM_001079846.1:c.4447-123_4447-122del	NP_001073315.1:n.4447-123_4447-122del
NM_004380.2:c.4561-123_4561-122del	NP_004371.2:n.4561-123_4561-122del
XM_005255124.3:c.4516-123_4516-122del	XP_005255181.1:n.4516-123_4516-122del
XM_005255125.3:c.4144-123_4144-122del	XP_005255182.1:n.4144-123_4144-122del
XM_006720848.2:c.4300-123_4300-122del	XP_006720911.1:n.4300-123_4300-122del
XM_011522380.1:c.4507-123_4507-122del	XP_011520682.1:n.4507-123_4507-122del
XM_011522381.1:c.3808-123_3808-122del	XP_011520683.1:n.3808-123_3808-122del
XM_005255124.4:c.4516-123_4516-122del	XP_005255181.1:n.4516-123_4516-122del
XM_005255125.4:c.4144-123_4144-122del	XP_005255182.1:n.4144-123_4144-122del
XM_006720848.3:c.4300-123_4300-122del	XP_006720911.1:n.4300-123_4300-122del
XM_011522381.2:c.3808-123_3808-122del	XP_011520683.1:n.3808-123_3808-122del
XM_017022944.1:c.4555-123_4555-122del	XP_016878433.1:n.4555-123_4555-122del
NM_004380.3:c.4561-123_4561-122del MANE Select	NP_004371.2:n.4561-123_4561-122del