Canonical Allele Identifier: CA640895206

Gene: CYBB

Linked Data

• dbSNP Id: rs1160952893
• gnomAD v2: X-37643130-C-CAT
• gnomAD v3: X-37783877-C-CAT
• gnomAD v4: X-37783877-C-CAT
• MyVariant Identifiers: chrX:g.37643130_37643131insAT (hg19) ; chrX:g.37783877_37783878insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783886_37783887dup , CM000685.2:g.37783886_37783887dup	GRCh38
NC_000023.10:g.37643139_37643140dup , CM000685.1:g.37643139_37643140dup	GRCh37
NC_000023.9:g.37528083_37528084dup	NCBI36
NG_009065.1:g.8870_8871dup , LRG_53:g.8870_8871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.252+286_252+287dup	ENSP00000512461.1:n.252+286_252+287dup
ENST00000696171.1:c.156+286_156+287dup	ENSP00000512462.1:n.156+286_156+287dup
ENST00000696172.1:c.252+286_252+287dup	ENSP00000512463.1:n.252+286_252+287dup
ENST00000696173.1:n.260+286_260+287dup
ENST00000378588.5:c.252+286_252+287dup MANE Select	ENSP00000367851.4:n.252+286_252+287dup
ENST00000378588.4:c.252+286_252+287dup	ENSP00000367851.4:n.252+286_252+287dup
ENST00000465127.1:c.171+357886_171+357887dup	ENSP00000417050.1:n.171+357886_171+357887dup
NM_000397.3:c.252+286_252+287dup , LRG_53t1:c.252+286_252+287dup	NP_000388.2:n.252+286_252+287dup
XM_011543890.1:c.-179+286_-179+287dup	XP_011542192.1:n.-179+286_-179+287dup
NM_000397.4:c.252+286_252+287dup MANE Select	NP_000388.2:n.252+286_252+287dup