Canonical Allele Identifier: CA2547489293

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3746047_3746048insAATTTTAGACTTAAGAGCA , CM000678.2:g.3746047_3746048insAATTTTAGACTTAAGAGCA	GRCh38
NC_000016.9:g.3796048_3796049insAATTTTAGACTTAAGAGCA , CM000678.1:g.3796048_3796049insAATTTTAGACTTAAGAGCA	GRCh37
NC_000016.8:g.3736049_3736050insAATTTTAGACTTAAGAGCA	NCBI36
NG_009873.1:g.139073_139074insTGCTCTTAAGTCTAAAATT
NG_009873.2:g.139666_139667insTGCTCTTAAGTCTAAAATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT MANE Select	ENSP00000262367.5:n.3837-694_3837-693insT...
ENST00000638158.1:n.58-453_58-452insTGCTCTTAAGTCTAAAATT
ENST00000262367.9:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT	ENSP00000262367.5:n.3837-694_3837-693insT...
ENST00000382070.7:c.3723-694_3723-693insTGCTCTTAAGTCTAAAATT	ENSP00000371502.3:n.3723-694_3723-693insT...
ENST00000570939.2:c.2472-694_2472-693insTGCTCTTAAGTCTAAAATT	ENSP00000461002.2:n.2472-694_2472-693insT...
ENST00000573517.6:c.143-694_143-693insTGCTCTTAAGTCTAAAATT
NM_001079846.1:c.3723-694_3723-693insTGCTCTTAAGTCTAAAATT	NP_001073315.1:n.3723-694_3723-693insTGCT...
NM_004380.2:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT	NP_004371.2:n.3837-694_3837-693insTGCTCTT...
XM_005255124.3:c.3792-694_3792-693insTGCTCTTAAGTCTAAAATT	XP_005255181.1:n.3792-694_3792-693insTGCT...
XM_005255125.3:c.3420-694_3420-693insTGCTCTTAAGTCTAAAATT	XP_005255182.1:n.3420-694_3420-693insTGCT...
XM_006720848.2:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT	XP_006720911.1:n.3837-694_3837-693insTGCT...
XM_011522380.1:c.3783-694_3783-693insTGCTCTTAAGTCTAAAATT	XP_011520682.1:n.3783-694_3783-693insTGCT...
XM_011522381.1:c.3084-694_3084-693insTGCTCTTAAGTCTAAAATT	XP_011520683.1:n.3084-694_3084-693insTGCT...
XM_011522382.1:c.3837-453_3837-452insTGCTCTTAAGTCTAAAATT	XP_011520684.1:n.3837-453_3837-452insTGCT...
XM_005255124.4:c.3792-694_3792-693insTGCTCTTAAGTCTAAAATT	XP_005255181.1:n.3792-694_3792-693insTGCT...
XM_005255125.4:c.3420-694_3420-693insTGCTCTTAAGTCTAAAATT	XP_005255182.1:n.3420-694_3420-693insTGCT...
XM_006720848.3:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT	XP_006720911.1:n.3837-694_3837-693insTGCT...
XM_011522381.2:c.3084-694_3084-693insTGCTCTTAAGTCTAAAATT	XP_011520683.1:n.3084-694_3084-693insTGCT...
XM_011522382.3:c.3837-453_3837-452insTGCTCTTAAGTCTAAAATT	XP_011520684.1:n.3837-453_3837-452insTGCT...
XM_017022944.1:c.3831-694_3831-693insTGCTCTTAAGTCTAAAATT	XP_016878433.1:n.3831-694_3831-693insTGCT...
NM_004380.3:c.3837-694_3837-693insTGCTCTTAAGTCTAAAATT MANE Select	NP_004371.2:n.3837-694_3837-693insTGCTCTT...