Canonical Allele Identifier: CA2631401225

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736301-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736302_3736303insAG , CM000678.2:g.3736302_3736303insAG	GRCh38
NC_000016.9:g.3786303_3786304insAG , CM000678.1:g.3786303_3786304insAG	GRCh37
NC_000016.8:g.3726304_3726305insAG	NCBI36
NG_009873.1:g.148819_148820insTC
NG_009873.2:g.149412_149413insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-99_4561-98insTC MANE Select	ENSP00000262367.5:n.4561-99_4561-98insTC
ENST00000262367.9:c.4561-99_4561-98insTC	ENSP00000262367.5:n.4561-99_4561-98insTC
ENST00000382070.7:c.4447-99_4447-98insTC	ENSP00000371502.3:n.4447-99_4447-98insTC
ENST00000570939.2:c.3196-99_3196-98insTC	ENSP00000461002.2:n.3196-99_3196-98insTC
ENST00000571763.5:n.351-99_351-98insTC
ENST00000576720.1:n.3384-99_3384-98insTC
NM_001079846.1:c.4447-99_4447-98insTC	NP_001073315.1:n.4447-99_4447-98insTC
NM_004380.2:c.4561-99_4561-98insTC	NP_004371.2:n.4561-99_4561-98insTC
XM_005255124.3:c.4516-99_4516-98insTC	XP_005255181.1:n.4516-99_4516-98insTC
XM_005255125.3:c.4144-99_4144-98insTC	XP_005255182.1:n.4144-99_4144-98insTC
XM_006720848.2:c.4300-99_4300-98insTC	XP_006720911.1:n.4300-99_4300-98insTC
XM_011522380.1:c.4507-99_4507-98insTC	XP_011520682.1:n.4507-99_4507-98insTC
XM_011522381.1:c.3808-99_3808-98insTC	XP_011520683.1:n.3808-99_3808-98insTC
XM_005255124.4:c.4516-99_4516-98insTC	XP_005255181.1:n.4516-99_4516-98insTC
XM_005255125.4:c.4144-99_4144-98insTC	XP_005255182.1:n.4144-99_4144-98insTC
XM_006720848.3:c.4300-99_4300-98insTC	XP_006720911.1:n.4300-99_4300-98insTC
XM_011522381.2:c.3808-99_3808-98insTC	XP_011520683.1:n.3808-99_3808-98insTC
XM_017022944.1:c.4555-99_4555-98insTC	XP_016878433.1:n.4555-99_4555-98insTC
NM_004380.3:c.4561-99_4561-98insTC MANE Select	NP_004371.2:n.4561-99_4561-98insTC