Canonical Allele Identifier: CA3496004

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 523932
• ClinVar RCV Id: RCV000627412 ; RCV000991162
• dbSNP Id: rs565782662
• ExAC: 5:147499874 GA / G
• gnomAD v2: 5-147499874-GA-G
• gnomAD v3: 5-148120311-GA-G
• gnomAD v4: 5-148120311-GA-G
• COSMIC: COSM111546 ; COSM4747965
• MyVariant Identifiers: chr5:g.147499884del (hg19) ; chr5:g.147499877del (hg19) ; chr5:g.147499876del (hg19) ; chr5:g.147499875del (hg19) ; chr5:g.148120321del (hg38) ; chr5:g.148120314del (hg38) ; chr5:g.148120312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148120321del , CM000667.2:g.148120321del	GRCh38
NC_000005.9:g.147499884del , CM000667.1:g.147499884del	GRCh37
NC_000005.8:g.147480077del	NCBI36
NG_009633.1:g.61350del , LRG_110:g.61350del

Transcript Alleles

HGVS	Amino-acid change
ENST00000256084.8:c.2468del MANE Select	ENSP00000256084.7:p.Lys823ArgfsTer?
ENST00000256084.7:c.2468del	ENSP00000256084.7:p.Lys823ArgfsTer?
ENST00000359874.7:c.2468del	ENSP00000352936.3:p.Lys823ArgfsTer?
ENST00000398454.5:c.2468del	ENSP00000381472.1:p.Lys823ArgfsTer?
ENST00000508733.5:c.2411del	ENSP00000421519.1:p.Lys804ArgfsTer?
NM_001127698.1:c.2468del	NP_001121170.1:p.Lys823ArgfsTer?
NM_001127699.1:c.2468del	NP_001121171.1:p.Lys823ArgfsTer?
NM_006846.3:c.2468del , LRG_110t1:c.2468del	NP_006837.2:p.Lys823ArgfsTer?
XM_011537550.1:c.2411del	XP_011535852.1:p.Lys804ArgfsTer?
XM_011537551.1:c.2384del	XP_011535853.1:p.Lys795ArgfsTer?
XM_011537551.2:c.2384del	XP_011535853.1:p.Lys795ArgfsTer?
NM_001127698.2:c.2468del	NP_001121170.1:p.Lys823ArgfsTer?
NM_001127699.2:c.2468del	NP_001121171.1:p.Lys823ArgfsTer?
NM_006846.4:c.2468del MANE Select	NP_006837.2:p.Lys823ArgfsTer?