Canonical Allele Identifier: CA2675855971
Gene: SPINK5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148101308del , CM000667.2:g.148101308del GRCh38
NC_000005.9:g.147480871del , CM000667.1:g.147480871del GRCh37
NC_000005.8:g.147461064del NCBI36
NG_009633.1:g.42337del , LRG_110:g.42337del

Transcript Alleles

HGVS Amino-acid change
ENST00000481286.6:n.830-47del
ENST00000256084.8:c.1221-47del MANE Select ENSP00000256084.7:n.1221-47del
ENST00000256084.7:c.1221-47del ENSP00000256084.7:n.1221-47del
ENST00000359874.7:c.1221-47del ENSP00000352936.3:n.1221-47del
ENST00000398454.5:c.1221-47del ENSP00000381472.1:n.1221-47del
ENST00000476608.1:n.737-47del
ENST00000507988.5:n.1385-47del
ENST00000508733.5:c.1164-47del ENSP00000421519.1:n.1164-47del
NM_001127698.1:c.1221-47del NP_001121170.1:n.1221-47del
NM_001127699.1:c.1221-47del NP_001121171.1:n.1221-47del
NM_006846.3:c.1221-47del , LRG_110t1:c.1221-47del NP_006837.2:n.1221-47del
XM_011537550.1:c.1164-47del XP_011535852.1:n.1164-47del
XM_011537551.1:c.1137-47del XP_011535853.1:n.1137-47del
XM_011537551.2:c.1137-47del XP_011535853.1:n.1137-47del
NM_001127698.2:c.1221-47del NP_001121170.1:n.1221-47del
NM_001127699.2:c.1221-47del NP_001121171.1:n.1221-47del
NM_006846.4:c.1221-47del MANE Select NP_006837.2:n.1221-47del