Canonical Allele Identifier: CA1589892327
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107436_148107437delinsGA , CM000667.2:g.148107436_148107437delinsGA GRCh38
NC_000005.9:g.147486999_147487000delinsGA , CM000667.1:g.147486999_147487000delinsGA GRCh37
NC_000005.8:g.147467192_147467193delinsGA NCBI36
NG_009633.1:g.48465_48466delinsGA , LRG_110:g.48465_48466delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+272_1216+273delinsGA
ENST00000256084.8:c.1607+272_1607+273delinsGA MANE Select ENSP00000256084.7:n.1607+272_1607+273delinsGA
ENST00000256084.7:c.1607+272_1607+273delinsGA ENSP00000256084.7:n.1607+272_1607+273delinsGA
ENST00000359874.7:c.1607+272_1607+273delinsGA ENSP00000352936.3:n.1607+272_1607+273delinsGA
ENST00000398454.5:c.1607+272_1607+273delinsGA ENSP00000381472.1:n.1607+272_1607+273delinsGA
ENST00000507988.5:n.1771+272_1771+273delinsGA
ENST00000508733.5:c.1550+272_1550+273delinsGA ENSP00000421519.1:n.1550+272_1550+273delinsGA
NM_001127698.1:c.1607+272_1607+273delinsGA NP_001121170.1:n.1607+272_1607+273delinsGA
NM_001127699.1:c.1607+272_1607+273delinsGA NP_001121171.1:n.1607+272_1607+273delinsGA
NM_006846.3:c.1607+272_1607+273delinsGA , LRG_110t1:c.1607+272_1607+273delinsGA NP_006837.2:n.1607+272_1607+273delinsGA
XM_011537550.1:c.1550+272_1550+273delinsGA XP_011535852.1:n.1550+272_1550+273delinsGA
XM_011537551.1:c.1523+272_1523+273delinsGA XP_011535853.1:n.1523+272_1523+273delinsGA
XM_011537551.2:c.1523+272_1523+273delinsGA XP_011535853.1:n.1523+272_1523+273delinsGA
NM_001127698.2:c.1607+272_1607+273delinsGA NP_001121170.1:n.1607+272_1607+273delinsGA
NM_001127699.2:c.1607+272_1607+273delinsGA NP_001121171.1:n.1607+272_1607+273delinsGA
NM_006846.4:c.1607+272_1607+273delinsGA MANE Select NP_006837.2:n.1607+272_1607+273delinsGA