Canonical Allele Identifier: CA2631403623

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729207-GGTGGGGGGGCCGGCACCTGGCTGGTAGGCTTCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729212_3729246del , CM000678.2:g.3729212_3729246del	GRCh38
NC_000016.9:g.3779213_3779247del , CM000678.1:g.3779213_3779247del	GRCh37
NC_000016.8:g.3719214_3719248del	NCBI36
NG_009873.1:g.155879_155913del
NG_009873.2:g.156472_156506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5805_5839del MANE Select	ENSP00000262367.5:p.Gly1936ProfsTer18
ENST00000262367.9:c.5805_5839del	ENSP00000262367.5:p.Gly1936ProfsTer18
ENST00000382070.7:c.5691_5725del	ENSP00000371502.3:p.Gly1898ProfsTer18
NM_001079846.1:c.5691_5725del	NP_001073315.1:p.Gly1898ProfsTer18
NM_004380.2:c.5805_5839del	NP_004371.2:p.Gly1936ProfsTer18
XM_005255124.3:c.5760_5794del	XP_005255181.1:p.Gly1921ProfsTer18
XM_005255125.3:c.5388_5422del	XP_005255182.1:p.Gly1797ProfsTer18
XM_006720848.2:c.5544_5578del	XP_006720911.1:p.Gly1849ProfsTer18
XM_011522380.1:c.5751_5785del	XP_011520682.1:p.Gly1918ProfsTer18
XM_011522381.1:c.5052_5086del	XP_011520683.1:p.Gly1685ProfsTer18
XM_005255124.4:c.5760_5794del	XP_005255181.1:p.Gly1921ProfsTer18
XM_005255125.4:c.5388_5422del	XP_005255182.1:p.Gly1797ProfsTer18
XM_006720848.3:c.5544_5578del	XP_006720911.1:p.Gly1849ProfsTer18
XM_011522381.2:c.5052_5086del	XP_011520683.1:p.Gly1685ProfsTer18
XM_017022944.1:c.5799_5833del	XP_016878433.1:p.Gly1934ProfsTer18
NM_004380.3:c.5805_5839del MANE Select	NP_004371.2:p.Gly1936ProfsTer18