Canonical Allele Identifier: CA1589892323
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107432_148107436delinsAAGAG , CM000667.2:g.148107432_148107436delinsAAGAG GRCh38
NC_000005.9:g.147486995_147486999delinsAAGAG , CM000667.1:g.147486995_147486999delinsAAGAG GRCh37
NC_000005.8:g.147467188_147467192delinsAAGAG NCBI36
NG_009633.1:g.48461_48465delinsAAGAG , LRG_110:g.48461_48465delinsAAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+268_1216+272delinsAAGAG
ENST00000256084.8:c.1607+268_1607+272delinsAAGAG MANE Select ENSP00000256084.7:n.1607+268_1607+272delinsAAGAG
ENST00000256084.7:c.1607+268_1607+272delinsAAGAG ENSP00000256084.7:n.1607+268_1607+272delinsAAGAG
ENST00000359874.7:c.1607+268_1607+272delinsAAGAG ENSP00000352936.3:n.1607+268_1607+272delinsAAGAG
ENST00000398454.5:c.1607+268_1607+272delinsAAGAG ENSP00000381472.1:n.1607+268_1607+272delinsAAGAG
ENST00000507988.5:n.1771+268_1771+272delinsAAGAG
ENST00000508733.5:c.1550+268_1550+272delinsAAGAG ENSP00000421519.1:n.1550+268_1550+272delinsAAGAG
NM_001127698.1:c.1607+268_1607+272delinsAAGAG NP_001121170.1:n.1607+268_1607+272delinsAAGAG
NM_001127699.1:c.1607+268_1607+272delinsAAGAG NP_001121171.1:n.1607+268_1607+272delinsAAGAG
NM_006846.3:c.1607+268_1607+272delinsAAGAG , LRG_110t1:c.1607+268_1607+272delinsAAGAG NP_006837.2:n.1607+268_1607+272delinsAAGAG
XM_011537550.1:c.1550+268_1550+272delinsAAGAG XP_011535852.1:n.1550+268_1550+272delinsAAGAG
XM_011537551.1:c.1523+268_1523+272delinsAAGAG XP_011535853.1:n.1523+268_1523+272delinsAAGAG
XM_011537551.2:c.1523+268_1523+272delinsAAGAG XP_011535853.1:n.1523+268_1523+272delinsAAGAG
NM_001127698.2:c.1607+268_1607+272delinsAAGAG NP_001121170.1:n.1607+268_1607+272delinsAAGAG
NM_001127699.2:c.1607+268_1607+272delinsAAGAG NP_001121171.1:n.1607+268_1607+272delinsAAGAG
NM_006846.4:c.1607+268_1607+272delinsAAGAG MANE Select NP_006837.2:n.1607+268_1607+272delinsAAGAG