Canonical Allele Identifier: CA875141440

Gene: CYBB

Linked Data

• dbSNP Id: rs1250083769
• gnomAD v3: X-37783925-CAT-C
• gnomAD v4: X-37783925-CAT-C
• MyVariant Identifiers: chrX:g.37783926_37783927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.37783926_37783927del , CM000685.2:g.37783926_37783927del	GRCh38
NC_000023.10:g.37643179_37643180del , CM000685.1:g.37643179_37643180del	GRCh37
NC_000023.9:g.37528123_37528124del	NCBI36
NG_009065.1:g.8910_8911del , LRG_53:g.8910_8911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696170.1:c.252+326_252+327del	ENSP00000512461.1:n.252+326_252+327del
ENST00000696171.1:c.156+326_156+327del	ENSP00000512462.1:n.156+326_156+327del
ENST00000696172.1:c.252+326_252+327del	ENSP00000512463.1:n.252+326_252+327del
ENST00000696173.1:n.260+326_260+327del
ENST00000378588.5:c.252+326_252+327del MANE Select	ENSP00000367851.4:n.252+326_252+327del
ENST00000378588.4:c.252+326_252+327del	ENSP00000367851.4:n.252+326_252+327del
ENST00000465127.1:c.171+357926_171+357927del	ENSP00000417050.1:n.171+357926_171+357927del
NM_000397.3:c.252+326_252+327del , LRG_53t1:c.252+326_252+327del	NP_000388.2:n.252+326_252+327del
XM_011543890.1:c.-179+326_-179+327del	XP_011542192.1:n.-179+326_-179+327del
NM_000397.4:c.252+326_252+327del MANE Select	NP_000388.2:n.252+326_252+327del