Canonical Allele Identifier: CA2670075803

Gene: CC2D2A

Linked Data

• gnomAD v4: 4-15559225-CATAGGGCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15559226_15559234del , CM000666.2:g.15559226_15559234del	GRCh38
NC_000004.11:g.15560849_15560857del , CM000666.1:g.15560849_15560857del	GRCh37
NC_000004.10:g.15169947_15169955del	NCBI36
NG_013035.1:g.94361_94369del , LRG_697:g.94361_94369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.2891_2899del	ENSP00000374303.8:p.His964_Ile967delinsLeu
ENST00000424120.6:c.2891_2899del MANE Select	ENSP00000403465.1:p.His964_Ile967delinsLeu
ENST00000503292.6:c.2891_2899del	ENSP00000421809.1:p.His964_Ile967delinsLeu
ENST00000506643.5:c.2744_2752del	ENSP00000422931.2:p.His915_Ile918delinsLeu
ENST00000634028.2:c.2744_2752del	ENSP00000488669.2:p.His915_Ile918delinsLeu
ENST00000650860.2:c.2744_2752del	ENSP00000498775.1:p.His915_Ile918delinsLeu
ENST00000674945.1:c.2744_2752del	ENSP00000502333.1:p.His915_Ile918delinsLeu
ENST00000675619.1:n.970_978del
ENST00000675768.1:n.111_119del
ENST00000676337.1:c.2744_2752del	ENSP00000501728.1:p.His915_Ile918delinsLeu
ENST00000680586.1:n.818_826del
ENST00000389652.9:c.2353_2361del
ENST00000424120.5:c.2891_2899del	ENSP00000403465.1:p.His964_Ile967delinsLeu
ENST00000503292.5:c.2891_2899del	ENSP00000421809.1:p.His964_Ile967delinsLeu
ENST00000506643.4:c.1219_1227del
ENST00000634028.1:c.2874_2882del	ENSP00000488669.1:n.2874_2882del
NM_001080522.2:c.2891_2899del , LRG_697t1:c.2891_2899del	NP_001073991.2:p.His964_Ile967delinsLeu
XM_005248177.1:c.2891_2899del	XP_005248234.1:p.His964_Ile967delinsLeu
XM_011513869.1:c.2891_2899del	XP_011512171.1:p.His964_Ile967delinsLeu
XM_011513870.1:c.2891_2899del	XP_011512172.1:p.His964_Ile967delinsLeu
XM_011513871.1:c.2744_2752del	XP_011512173.1:p.His915_Ile918delinsLeu
XM_011513872.1:c.2891_2899del	XP_011512174.1:p.His964_Ile967delinsLeu
XM_011513873.1:c.2891_2899del	XP_011512175.1:p.His964_Ile967delinsLeu
XM_011513872.3:c.2891_2899del	XP_011512174.1:p.His964_Ile967delinsLeu
XM_017008482.1:c.2744_2752del	XP_016863971.1:p.His915_Ile918delinsLeu
XR_001741296.1:n.3091_3099del
NM_001378615.1:c.2891_2899del MANE Select	NP_001365544.1:p.His964_Ile967delinsLeu
NM_001378617.1:c.2744_2752del	NP_001365546.1:p.His915_Ile918delinsLeu