Canonical Allele Identifier: CA624184613

Gene: CYBA

Linked Data

• dbSNP Id: rs1567609238
• gnomAD v2: 16-88713458-TGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAA-T
• gnomAD v3: 16-88647050-TGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAA-T
• gnomAD v4: 16-88647050-TGCCTGGGCCCCGCAGCCCCCGGAGAGACCCCAGAGCAGGAGGAGACTCACCAGCGCTCCATGGTGGAGCCCTTCTTCCTCTTCCCCCGGGGGTACTCCAGCAGGCACACAAACACGCCCGCCACACTGAA-T
• MyVariant Identifiers: chr16:g.88713459_88713588del (hg19) ; chr16:g.88647051_88647180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88647054_88647183del , CM000678.2:g.88647054_88647183del	GRCh38
NC_000016.9:g.88713462_88713591del , CM000678.1:g.88713462_88713591del	GRCh37
NC_000016.8:g.87240963_87241092del	NCBI36
NG_007291.1:g.8870_8999del , LRG_52:g.8870_8999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000565588.6:c.129-5_203+50del
ENST00000696156.1:c.129-5_203+50del
ENST00000696157.1:c.129-5_203+50del
ENST00000696158.1:c.129-5_203+50del
ENST00000696159.1:c.129-5_203+50del
ENST00000696160.1:c.129-5_203+50del
ENST00000696161.1:c.129-5_203+50del
ENST00000696162.1:c.129-5_203+50del
ENST00000696163.1:c.129-5_203+50del
ENST00000261623.8:c.129-5_203+50del
ENST00000261623.7:c.129-5_203+50del
ENST00000562209.1:n.147-5_271del
ENST00000563526.5:n.104-5_178+50del
ENST00000566229.1:c.118-5_192+50del
ENST00000566534.5:n.151-5_225+50del
ENST00000567174.5:c.129-5_203+50del
ENST00000568278.1:c.129-5_203+50del
ENST00000569359.5:c.129-5_203+50del
NM_000101.3:c.129-5_203+50del
XM_011522905.1:c.129-5_203+50del
XM_011522905.3:c.129-5_203+50del
NM_000101.4:c.129-5_203+50del