Canonical Allele Identifier: CA2631401294

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727928-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727930_3727932del , CM000678.2:g.3727930_3727932del	GRCh38
NC_000016.9:g.3777931_3777933del , CM000678.1:g.3777931_3777933del	GRCh37
NC_000016.8:g.3717932_3717934del	NCBI36
NG_009873.1:g.157190_157192del
NG_009873.2:g.157783_157785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7116_7118del MANE Select	ENSP00000262367.5:p.Pro2373del
ENST00000262367.9:c.7116_7118del	ENSP00000262367.5:p.Pro2373del
ENST00000382070.7:c.7002_7004del	ENSP00000371502.3:p.Pro2335del
NM_001079846.1:c.7002_7004del	NP_001073315.1:p.Pro2335del
NM_004380.2:c.7116_7118del	NP_004371.2:p.Pro2373del
XM_005255124.3:c.7071_7073del	XP_005255181.1:p.Pro2358del
XM_005255125.3:c.6699_6701del	XP_005255182.1:p.Pro2234del
XM_006720848.2:c.6855_6857del	XP_006720911.1:p.Pro2286del
XM_011522380.1:c.7062_7064del	XP_011520682.1:p.Pro2355del
XM_011522381.1:c.6363_6365del	XP_011520683.1:p.Pro2122del
XM_005255124.4:c.7071_7073del	XP_005255181.1:p.Pro2358del
XM_005255125.4:c.6699_6701del	XP_005255182.1:p.Pro2234del
XM_006720848.3:c.6855_6857del	XP_006720911.1:p.Pro2286del
XM_011522381.2:c.6363_6365del	XP_011520683.1:p.Pro2122del
XM_017022944.1:c.7110_7112del	XP_016878433.1:p.Pro2371del
NM_004380.3:c.7116_7118del MANE Select	NP_004371.2:p.Pro2373del