Canonical Allele Identifier: CA2202928861

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728816_3728826delinsGGGCGACTTCA , CM000678.2:g.3728816_3728826delinsGGGCGACTTCA	GRCh38
NC_000016.9:g.3778817_3778827delinsGGGCGACTTCA , CM000678.1:g.3778817_3778827delinsGGGCGACTTCA	GRCh37
NC_000016.8:g.3718818_3718828delinsGGGCGACTTCA	NCBI36
NG_009873.1:g.156295_156305delinsTGAAGTCGCCC
NG_009873.2:g.156888_156898delinsTGAAGTCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6221_6231delinsTGAAGTCGCCC MANE Select	ENSP00000262367.5:p.Leu2074=
ENST00000262367.9:c.6221_6231delinsTGAAGTCGCCC	ENSP00000262367.5:p.Leu2074=
ENST00000382070.7:c.6107_6117delinsTGAAGTCGCCC	ENSP00000371502.3:p.Leu2036=
NM_001079846.1:c.6107_6117delinsTGAAGTCGCCC	NP_001073315.1:p.Leu2036=
NM_004380.2:c.6221_6231delinsTGAAGTCGCCC	NP_004371.2:p.Leu2074=
XM_005255124.3:c.6176_6186delinsTGAAGTCGCCC	XP_005255181.1:p.Leu2059=
XM_005255125.3:c.5804_5814delinsTGAAGTCGCCC	XP_005255182.1:p.Leu1935=
XM_006720848.2:c.5960_5970delinsTGAAGTCGCCC	XP_006720911.1:p.Leu1987=
XM_011522380.1:c.6167_6177delinsTGAAGTCGCCC	XP_011520682.1:p.Leu2056=
XM_011522381.1:c.5468_5478delinsTGAAGTCGCCC	XP_011520683.1:p.Leu1823=
XM_005255124.4:c.6176_6186delinsTGAAGTCGCCC	XP_005255181.1:p.Leu2059=
XM_005255125.4:c.5804_5814delinsTGAAGTCGCCC	XP_005255182.1:p.Leu1935=
XM_006720848.3:c.5960_5970delinsTGAAGTCGCCC	XP_006720911.1:p.Leu1987=
XM_011522381.2:c.5468_5478delinsTGAAGTCGCCC	XP_011520683.1:p.Leu1823=
XM_017022944.1:c.6215_6225delinsTGAAGTCGCCC	XP_016878433.1:p.Leu2072=
NM_004380.3:c.6221_6231delinsTGAAGTCGCCC MANE Select	NP_004371.2:p.Leu2074=