Canonical Allele Identifier: CA1082740384

Gene: SPINK5

Linked Data

• dbSNP Id: rs1753801674
• gnomAD v3: 5-148107081-TA-T
• gnomAD v4: 5-148107081-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107082del , CM000667.2:g.148107082del	GRCh38
NC_000005.9:g.147486645del , CM000667.1:g.147486645del	GRCh37
NC_000005.8:g.147466838del	NCBI36
NG_009633.1:g.48111del , LRG_110:g.48111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1134del
ENST00000256084.8:c.1525del MANE Select	ENSP00000256084.7:p.Ile509TyrfsTer?
ENST00000256084.7:c.1525del	ENSP00000256084.7:p.Ile509TyrfsTer?
ENST00000359874.7:c.1525del	ENSP00000352936.3:p.Ile509TyrfsTer?
ENST00000398454.5:c.1525del	ENSP00000381472.1:p.Ile509TyrfsTer?
ENST00000507988.5:n.1689del
ENST00000508733.5:c.1468del	ENSP00000421519.1:p.Ile490TyrfsTer?
NM_001127698.1:c.1525del	NP_001121170.1:p.Ile509TyrfsTer?
NM_001127699.1:c.1525del	NP_001121171.1:p.Ile509TyrfsTer?
NM_006846.3:c.1525del , LRG_110t1:c.1525del	NP_006837.2:p.Ile509TyrfsTer?
XM_011537550.1:c.1468del	XP_011535852.1:p.Ile490TyrfsTer?
XM_011537551.1:c.1441del	XP_011535853.1:p.Ile481TyrfsTer?
XM_011537551.2:c.1441del	XP_011535853.1:p.Ile481TyrfsTer?
NM_001127698.2:c.1525del	NP_001121170.1:p.Ile509TyrfsTer?
NM_001127699.2:c.1525del	NP_001121171.1:p.Ile509TyrfsTer?
NM_006846.4:c.1525del MANE Select	NP_006837.2:p.Ile509TyrfsTer?