Canonical Allele Identifier: CA1589892326
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107435_148107436delinsAG , CM000667.2:g.148107435_148107436delinsAG GRCh38
NC_000005.9:g.147486998_147486999delinsAG , CM000667.1:g.147486998_147486999delinsAG GRCh37
NC_000005.8:g.147467191_147467192delinsAG NCBI36
NG_009633.1:g.48464_48465delinsAG , LRG_110:g.48464_48465delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+271_1216+272delinsAG
ENST00000256084.8:c.1607+271_1607+272delinsAG MANE Select ENSP00000256084.7:n.1607+271_1607+272delinsAG
ENST00000256084.7:c.1607+271_1607+272delinsAG ENSP00000256084.7:n.1607+271_1607+272delinsAG
ENST00000359874.7:c.1607+271_1607+272delinsAG ENSP00000352936.3:n.1607+271_1607+272delinsAG
ENST00000398454.5:c.1607+271_1607+272delinsAG ENSP00000381472.1:n.1607+271_1607+272delinsAG
ENST00000507988.5:n.1771+271_1771+272delinsAG
ENST00000508733.5:c.1550+271_1550+272delinsAG ENSP00000421519.1:n.1550+271_1550+272delinsAG
NM_001127698.1:c.1607+271_1607+272delinsAG NP_001121170.1:n.1607+271_1607+272delinsAG
NM_001127699.1:c.1607+271_1607+272delinsAG NP_001121171.1:n.1607+271_1607+272delinsAG
NM_006846.3:c.1607+271_1607+272delinsAG , LRG_110t1:c.1607+271_1607+272delinsAG NP_006837.2:n.1607+271_1607+272delinsAG
XM_011537550.1:c.1550+271_1550+272delinsAG XP_011535852.1:n.1550+271_1550+272delinsAG
XM_011537551.1:c.1523+271_1523+272delinsAG XP_011535853.1:n.1523+271_1523+272delinsAG
XM_011537551.2:c.1523+271_1523+272delinsAG XP_011535853.1:n.1523+271_1523+272delinsAG
NM_001127698.2:c.1607+271_1607+272delinsAG NP_001121170.1:n.1607+271_1607+272delinsAG
NM_001127699.2:c.1607+271_1607+272delinsAG NP_001121171.1:n.1607+271_1607+272delinsAG
NM_006846.4:c.1607+271_1607+272delinsAG MANE Select NP_006837.2:n.1607+271_1607+272delinsAG