Canonical Allele Identifier: CA2631399326

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3730014-GCACGGACAGGTGGGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730016_3730032del , CM000678.2:g.3730016_3730032del	GRCh38
NC_000016.9:g.3780017_3780033del , CM000678.1:g.3780017_3780033del	GRCh37
NC_000016.8:g.3720018_3720034del	NCBI36
NG_009873.1:g.155090_155106del
NG_009873.2:g.155683_155699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-157_5173-141del MANE Select	ENSP00000262367.5:n.5173-157_5173-141del
ENST00000262367.9:c.5173-157_5173-141del	ENSP00000262367.5:n.5173-157_5173-141del
ENST00000382070.7:c.5059-157_5059-141del	ENSP00000371502.3:n.5059-157_5059-141del
NM_001079846.1:c.5059-157_5059-141del	NP_001073315.1:n.5059-157_5059-141del
NM_004380.2:c.5173-157_5173-141del	NP_004371.2:n.5173-157_5173-141del
XM_005255124.3:c.5128-157_5128-141del	XP_005255181.1:n.5128-157_5128-141del
XM_005255125.3:c.4756-157_4756-141del	XP_005255182.1:n.4756-157_4756-141del
XM_006720848.2:c.4912-157_4912-141del	XP_006720911.1:n.4912-157_4912-141del
XM_011522380.1:c.5119-157_5119-141del	XP_011520682.1:n.5119-157_5119-141del
XM_011522381.1:c.4420-157_4420-141del	XP_011520683.1:n.4420-157_4420-141del
XM_005255124.4:c.5128-157_5128-141del	XP_005255181.1:n.5128-157_5128-141del
XM_005255125.4:c.4756-157_4756-141del	XP_005255182.1:n.4756-157_4756-141del
XM_006720848.3:c.4912-157_4912-141del	XP_006720911.1:n.4912-157_4912-141del
XM_011522381.2:c.4420-157_4420-141del	XP_011520683.1:n.4420-157_4420-141del
XM_017022944.1:c.5167-157_5167-141del	XP_016878433.1:n.5167-157_5167-141del
NM_004380.3:c.5173-157_5173-141del MANE Select	NP_004371.2:n.5173-157_5173-141del