Canonical Allele Identifier: CA684744323

Gene: CCDC92

Linked Data

• dbSNP Id: rs1322966208
• gnomAD v3: 12-123942609-TAGAG-T
• gnomAD v4: 12-123942609-TAGAG-T
• MyVariant Identifiers: chr12:g.124427157_124427160del (hg19) ; chr12:g.123942610_123942613del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123942612_123942615del , CM000674.2:g.123942612_123942615del	GRCh38
NC_000012.11:g.124427159_124427162del , CM000674.1:g.124427159_124427162del	GRCh37
NC_000012.10:g.122993112_122993115del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238156.8:c.223+131_223+134del MANE Select	ENSP00000238156.3:n.223+131_223+134del
ENST00000238156.7:c.223+131_223+134del	ENSP00000238156.3:n.223+131_223+134del
ENST00000535556.5:c.172+131_172+134del	ENSP00000438281.1:n.172+131_172+134del
ENST00000539551.5:c.223+131_223+134del	ENSP00000442369.1:n.223+131_223+134del
ENST00000539761.5:c.223+131_223+134del	ENSP00000439441.1:n.223+131_223+134del
ENST00000542348.5:n.191+131_191+134del
ENST00000544798.2:n.287+131_287+134del
ENST00000545135.5:c.172+131_172+134del	ENSP00000439526.1:n.172+131_172+134del
ENST00000545891.5:c.172+131_172+134del	ENSP00000440024.1:n.172+131_172+134del
NM_001304957.1:c.223+131_223+134del	NP_001291886.1:n.223+131_223+134del
NM_001304958.1:c.223+131_223+134del	NP_001291887.1:n.223+131_223+134del
NM_001304959.1:c.223+131_223+134del	NP_001291888.1:n.223+131_223+134del
NM_001304960.1:c.223+131_223+134del	NP_001291889.1:n.223+131_223+134del
NM_001304961.1:c.172+131_172+134del	NP_001291890.1:n.172+131_172+134del
NM_025140.2:c.223+131_223+134del	NP_079416.1:n.223+131_223+134del
XM_005253624.1:c.223+131_223+134del	XP_005253681.1:n.223+131_223+134del
XM_005253624.2:c.223+131_223+134del	XP_005253681.1:n.223+131_223+134del
XM_024449192.1:c.223+131_223+134del	XP_024304960.1:n.223+131_223+134del
XM_024449193.1:c.223+131_223+134del	XP_024304961.1:n.223+131_223+134del
XM_024449194.1:c.223+131_223+134del	XP_024304962.1:n.223+131_223+134del
XM_024449195.1:c.223+131_223+134del	XP_024304963.1:n.223+131_223+134del
XM_024449196.1:c.223+131_223+134del	XP_024304964.1:n.223+131_223+134del
XM_024449197.1:c.223+131_223+134del	XP_024304965.1:n.223+131_223+134del
XM_024449199.1:c.223+131_223+134del	XP_024304967.1:n.223+131_223+134del
NM_001304957.2:c.223+131_223+134del	NP_001291886.1:n.223+131_223+134del
NM_001304958.2:c.223+131_223+134del	NP_001291887.1:n.223+131_223+134del
NM_001304959.2:c.223+131_223+134del	NP_001291888.1:n.223+131_223+134del
NM_001304960.2:c.223+131_223+134del	NP_001291889.1:n.223+131_223+134del
NM_001304961.2:c.172+131_172+134del	NP_001291890.1:n.172+131_172+134del
NM_025140.3:c.223+131_223+134del MANE Select	NP_079416.1:n.223+131_223+134del