Canonical Allele Identifier: CA620462792

Gene: CREBBP

Linked Data

• dbSNP Id: rs1400480150
• gnomAD v2: 16-3787087-A-AAG
• gnomAD v3: 16-3737086-A-AAG
• gnomAD v4: 16-3737086-A-AAG
• MyVariant Identifiers: chr16:g.3787087_3787088insAG (hg19) ; chr16:g.3737086_3737087insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3737088_3737089dup , CM000678.2:g.3737088_3737089dup	GRCh38
NC_000016.9:g.3787089_3787090dup , CM000678.1:g.3787089_3787090dup	GRCh37
NC_000016.8:g.3727090_3727091dup	NCBI36
NG_009873.1:g.148033_148034dup
NG_009873.2:g.148626_148627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-273_4395-272dup MANE Select	ENSP00000262367.5:n.4395-273_4395-272dup
ENST00000262367.9:c.4395-273_4395-272dup	ENSP00000262367.5:n.4395-273_4395-272dup
ENST00000382070.7:c.4281-273_4281-272dup	ENSP00000371502.3:n.4281-273_4281-272dup
ENST00000570939.2:c.3030-273_3030-272dup	ENSP00000461002.2:n.3030-273_3030-272dup
ENST00000574740.1:n.216-273_216-272dup
ENST00000576720.1:n.3218-273_3218-272dup
NM_001079846.1:c.4281-273_4281-272dup	NP_001073315.1:n.4281-273_4281-272dup
NM_004380.2:c.4395-273_4395-272dup	NP_004371.2:n.4395-273_4395-272dup
XM_005255124.3:c.4350-273_4350-272dup	XP_005255181.1:n.4350-273_4350-272dup
XM_005255125.3:c.3978-273_3978-272dup	XP_005255182.1:n.3978-273_3978-272dup
XM_006720848.2:c.4134-273_4134-272dup	XP_006720911.1:n.4134-273_4134-272dup
XM_011522380.1:c.4341-273_4341-272dup	XP_011520682.1:n.4341-273_4341-272dup
XM_011522381.1:c.3642-273_3642-272dup	XP_011520683.1:n.3642-273_3642-272dup
XM_005255124.4:c.4350-273_4350-272dup	XP_005255181.1:n.4350-273_4350-272dup
XM_005255125.4:c.3978-273_3978-272dup	XP_005255182.1:n.3978-273_3978-272dup
XM_006720848.3:c.4134-273_4134-272dup	XP_006720911.1:n.4134-273_4134-272dup
XM_011522381.2:c.3642-273_3642-272dup	XP_011520683.1:n.3642-273_3642-272dup
XM_017022944.1:c.4389-273_4389-272dup	XP_016878433.1:n.4389-273_4389-272dup
NM_004380.3:c.4395-273_4395-272dup MANE Select	NP_004371.2:n.4395-273_4395-272dup