Canonical Allele Identifier: CA2631399249

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729985-GCAGGATAGGAGACCCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729992_3730009del , CM000678.2:g.3729992_3730009del	GRCh38
NC_000016.9:g.3779993_3780010del , CM000678.1:g.3779993_3780010del	GRCh37
NC_000016.8:g.3719994_3720011del	NCBI36
NG_009873.1:g.155118_155135del
NG_009873.2:g.155711_155728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-129_5173-112del MANE Select	ENSP00000262367.5:n.5173-129_5173-112del
ENST00000262367.9:c.5173-129_5173-112del	ENSP00000262367.5:n.5173-129_5173-112del
ENST00000382070.7:c.5059-129_5059-112del	ENSP00000371502.3:n.5059-129_5059-112del
NM_001079846.1:c.5059-129_5059-112del	NP_001073315.1:n.5059-129_5059-112del
NM_004380.2:c.5173-129_5173-112del	NP_004371.2:n.5173-129_5173-112del
XM_005255124.3:c.5128-129_5128-112del	XP_005255181.1:n.5128-129_5128-112del
XM_005255125.3:c.4756-129_4756-112del	XP_005255182.1:n.4756-129_4756-112del
XM_006720848.2:c.4912-129_4912-112del	XP_006720911.1:n.4912-129_4912-112del
XM_011522380.1:c.5119-129_5119-112del	XP_011520682.1:n.5119-129_5119-112del
XM_011522381.1:c.4420-129_4420-112del	XP_011520683.1:n.4420-129_4420-112del
XM_005255124.4:c.5128-129_5128-112del	XP_005255181.1:n.5128-129_5128-112del
XM_005255125.4:c.4756-129_4756-112del	XP_005255182.1:n.4756-129_4756-112del
XM_006720848.3:c.4912-129_4912-112del	XP_006720911.1:n.4912-129_4912-112del
XM_011522381.2:c.4420-129_4420-112del	XP_011520683.1:n.4420-129_4420-112del
XM_017022944.1:c.5167-129_5167-112del	XP_016878433.1:n.5167-129_5167-112del
NM_004380.3:c.5173-129_5173-112del MANE Select	NP_004371.2:n.5173-129_5173-112del