Canonical Allele Identifier: CA658796654

Gene: SPINK5

Linked Data

• ClinVar Variation Id: 523036
• ClinVar RCV Id: RCV000626241
• dbSNP Id: rs1554105558
• MyVariant Identifiers: chr5:g.147491348_147491350del (hg19) ; chr5:g.148111785_148111787del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148111787_148111789del , CM000667.2:g.148111787_148111789del	GRCh38
NC_000005.9:g.147491350_147491352del , CM000667.1:g.147491350_147491352del	GRCh37
NC_000005.8:g.147471543_147471545del	NCBI36
NG_009633.1:g.52816_52818del , LRG_110:g.52816_52818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000481286.6:n.1321_1323del
ENST00000256084.8:c.1712_1714del MANE Select	ENSP00000256084.7:p.Arg571del
ENST00000256084.7:c.1712_1714del	ENSP00000256084.7:p.Arg571del
ENST00000359874.7:c.1712_1714del	ENSP00000352936.3:p.Arg571del
ENST00000398454.5:c.1712_1714del	ENSP00000381472.1:p.Arg571del
ENST00000507988.5:n.1876_1878del
ENST00000508733.5:c.1655_1657del	ENSP00000421519.1:p.Arg552del
NM_001127698.1:c.1712_1714del	NP_001121170.1:p.Arg571del
NM_001127699.1:c.1712_1714del	NP_001121171.1:p.Arg571del
NM_006846.3:c.1712_1714del , LRG_110t1:c.1712_1714del	NP_006837.2:p.Arg571del
XM_011537550.1:c.1655_1657del	XP_011535852.1:p.Arg552del
XM_011537551.1:c.1628_1630del	XP_011535853.1:p.Arg543del
XM_011537551.2:c.1628_1630del	XP_011535853.1:p.Arg543del
NM_001127698.2:c.1712_1714del	NP_001121170.1:p.Arg571del
NM_001127699.2:c.1712_1714del	NP_001121171.1:p.Arg571del
NM_006846.4:c.1712_1714del MANE Select	NP_006837.2:p.Arg571del