Canonical Allele Identifier: CA763911552

Gene: CREB1

Linked Data

• dbSNP Id: rs1307154624
• gnomAD v3: 2-207564506-CTCTTAAAAAAAAAAAA-C
• gnomAD v4: 2-207564506-CTCTTAAAAAAAAAAAA-C
• MyVariant Identifiers: chr2:g.208429231_208429246del (hg19) ; chr2:g.207564507_207564522del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.207564521_207564536del , CM000664.2:g.207564521_207564536del	GRCh38
NC_000002.11:g.208429245_208429260del , CM000664.1:g.208429245_208429260del	GRCh37
NC_000002.10:g.208137490_208137505del	NCBI36
NG_023299.1:g.39630_39645del

Transcript Alleles

HGVS	Amino-acid change
ENST00000353267.8:c.262-2942_262-2927del MANE Select	ENSP00000236995.3:n.262-2942_262-2927del
ENST00000353267.7:c.262-2942_262-2927del	ENSP00000236995.3:n.262-2942_262-2927del
ENST00000418081.5:c.102-2942_102-2927del
ENST00000421139.5:c.142-2942_142-2927del	ENSP00000403678.1:n.142-2942_142-2927del
ENST00000430624.5:c.262-2942_262-2927del	ENSP00000405539.1:n.262-2942_262-2927del
ENST00000432329.6:c.304-2942_304-2927del	ENSP00000387699.2:n.304-2942_304-2927del
ENST00000445803.5:c.304-2942_304-2927del	ENSP00000407227.1:n.304-2942_304-2927del
ENST00000448277.5:c.142-2942_142-2927del	ENSP00000405711.1:n.142-2942_142-2927del
ENST00000452474.5:c.304-2942_304-2927del	ENSP00000392428.1:n.304-2942_304-2927del
ENST00000457101.5:c.184-2942_184-2927del	ENSP00000391125.1:n.184-2942_184-2927del
ENST00000464407.1:n.233-2942_233-2927del
ENST00000480189.5:n.282-2942_282-2927del
ENST00000494094.5:n.333-2942_333-2927del
NM_004379.3:c.262-2942_262-2927del	NP_004370.1:n.262-2942_262-2927del
NM_134442.3:c.304-2942_304-2927del	NP_604391.1:n.304-2942_304-2927del
XM_011510645.1:c.304-2942_304-2927del	XP_011508947.1:n.304-2942_304-2927del
XM_011510646.1:c.304-2942_304-2927del	XP_011508948.1:n.304-2942_304-2927del
XM_011510647.1:c.262-2942_262-2927del	XP_011508949.1:n.262-2942_262-2927del
XM_011510648.1:c.304-2942_304-2927del	XP_011508950.1:n.304-2942_304-2927del
XM_011510649.1:c.184-2942_184-2927del	XP_011508951.1:n.184-2942_184-2927del
XM_011510650.1:c.184-2942_184-2927del	XP_011508952.1:n.184-2942_184-2927del
XM_011510651.1:c.142-2942_142-2927del	XP_011508953.1:n.142-2942_142-2927del
XM_011510652.1:c.304-2942_304-2927del	XP_011508954.1:n.304-2942_304-2927del
XM_011510653.1:c.-320-2942_-320-2927del	XP_011508955.1:n.-320-2942_-320-2927del
XR_241289.1:n.531-2942_531-2927del
XR_241290.1:n.531-2942_531-2927del
XR_241292.1:n.531-2942_531-2927del
XR_427071.1:n.463-2942_463-2927del
XR_922862.1:n.319-2942_319-2927del
NM_001320793.1:c.262-2942_262-2927del	NP_001307722.1:n.262-2942_262-2927del
NM_004379.4:c.262-2942_262-2927del	NP_004370.1:n.262-2942_262-2927del
NM_134442.4:c.304-2942_304-2927del	NP_604391.1:n.304-2942_304-2927del
NR_135473.1:n.555-2942_555-2927del
XM_011510646.3:c.304-2942_304-2927del	XP_011508948.1:n.304-2942_304-2927del
XM_011510647.3:c.262-2942_262-2927del	XP_011508949.1:n.262-2942_262-2927del
XM_011510648.3:c.304-2942_304-2927del	XP_011508950.1:n.304-2942_304-2927del
XM_011510650.3:c.184-2942_184-2927del	XP_011508952.1:n.184-2942_184-2927del
XM_011510651.2:c.142-2942_142-2927del	XP_011508953.1:n.142-2942_142-2927del
XM_017003399.2:c.262-2942_262-2927del	XP_016858888.1:n.262-2942_262-2927del
XM_017003401.2:c.-450-2942_-450-2927del	XP_016858890.1:n.-450-2942_-450-2927del
XR_001738634.2:n.443-2942_443-2927del
XR_001738635.2:n.375-2942_375-2927del
XR_001738636.2:n.504-2942_504-2927del
XR_001738637.2:n.443-2942_443-2927del
XR_241290.2:n.504-2942_504-2927del
XR_241292.2:n.504-2942_504-2927del
NM_004379.5:c.262-2942_262-2927del MANE Select	NP_004370.1:n.262-2942_262-2927del
NM_001320793.2:c.262-2942_262-2927del	NP_001307722.1:n.262-2942_262-2927del
NM_001371426.1:c.304-2942_304-2927del	NP_001358355.1:n.304-2942_304-2927del
NM_001371427.1:c.262-2942_262-2927del	NP_001358356.1:n.262-2942_262-2927del
NM_001371428.1:c.142-2942_142-2927del	NP_001358357.1:n.142-2942_142-2927del
NM_134442.5:c.304-2942_304-2927del	NP_604391.1:n.304-2942_304-2927del
NR_135473.2:n.485-2942_485-2927del
NR_163946.1:n.443-2942_443-2927del
NR_163947.1:n.327-2942_327-2927del