Canonical Allele Identifier: CA6720244

Gene: CRADD

Linked Data

• dbSNP Id: rs769542388
• ExAC: 12:94243949 C / CG
• gnomAD v2: 12-94243949-C-CG
• gnomAD v4: 12-93850173-C-CG
• MyVariant Identifiers: chr12:g.94243949_94243950insG (hg19) ; chr12:g.93850173_93850174insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93850175dup , CM000674.2:g.93850175dup	GRCh38
NC_000012.11:g.94243951dup , CM000674.1:g.94243951dup	GRCh37
NC_000012.10:g.92768082dup	NCBI36
NG_032159.1:g.177801dup
NG_032159.2:g.177801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332896.8:c.504dup MANE Select	ENSP00000327647.3:p.Gln169AlafsTer?
ENST00000332896.7:c.504dup	ENSP00000327647.3:p.Gln169AlafsTer?
ENST00000542893.2:c.504dup	ENSP00000439068.2:p.Gln169AlafsTer?
ENST00000548330.1:n.889dup
ENST00000548483.5:c.299-43875dup	ENSP00000448685.1:n.299-43875dup
ENST00000550030.1:n.304dup
ENST00000551065.5:c.299-9144dup	ENSP00000448425.1:n.299-9144dup
ENST00000609189.1:n.280dup
NM_003805.3:c.504dup	NP_003796.1:p.Gln169AlafsTer?
XM_005269211.3:c.299-43875dup	XP_005269268.1:n.299-43875dup
NM_001320099.1:c.504dup	NP_001307028.1:p.Gln169AlafsTer?
NM_001320100.1:c.299-43875dup	NP_001307029.1:n.299-43875dup
NM_003805.4:c.504dup	NP_003796.1:p.Gln169AlafsTer?
NR_135147.1:n.407-9144dup
XM_017020144.1:c.299-9144dup	XP_016875633.1:n.299-9144dup
XR_001748910.1:n.430-9144dup
NM_003805.5:c.504dup MANE Select	NP_003796.1:p.Gln169AlafsTer?
NM_001320099.2:c.504dup	NP_001307028.1:p.Gln169AlafsTer?
NM_001320100.2:c.299-43875dup	NP_001307029.1:n.299-43875dup
NR_135147.2:n.403-9144dup