Canonical Allele Identifier: CA1603608463

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177403675_177403676delinsGA , CM000667.2:g.177403675_177403676delinsGA GRCh38
NC_000005.9:g.176830676_176830677delinsGA , CM000667.1:g.176830676_176830677delinsGA GRCh37
NC_000005.8:g.176763282_176763283delinsGA NCBI36
NG_007568.1:g.10901_10902delinsTC , LRG_145:g.10901_10902delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*917-59_*917-58delinsTC (F12) ENSP00000512476.1:n.*917-59_*917-58delinsTC
ENST00000696193.1:c.*1638-59_*1638-58delinsTC (F12) ENSP00000512477.1:n.*1638-59_*1638-58delinsTC
ENST00000696194.1:c.*841-59_*841-58delinsTC (F12) ENSP00000512478.1:n.*841-59_*841-58delinsTC
ENST00000696195.1:n.4054-59_4054-58delinsTC (F12)
ENST00000696200.1:n.1536_1537delinsTC (F12)
ENST00000696201.1:c.1251-59_1251-58delinsTC (F12) ENSP00000512482.1:n.1251-59_1251-58delinsTC
ENST00000253496.4:c.1251-59_1251-58delinsTC (F12) MANE Select ENSP00000253496.3:n.1251-59_1251-58delinsTC
ENST00000253496.3:c.1251-59_1251-58delinsTC (F12) ENSP00000253496.3:n.1251-59_1251-58delinsTC
ENST00000502598.5:c.-45+149_-45+150delinsGA (GRK6) ENSP00000422873.1:n.-45+149_-45+150delinsGA
ENST00000502854.5:n.692_693delinsTC (F12)
ENST00000503736.1:n.623-59_623-58delinsTC (F12)
ENST00000504406.5:n.75_76delinsTC (F12)
ENST00000510358.5:n.797_798delinsTC (F12)
NM_000505.3:c.1251-59_1251-58delinsTC , LRG_145t1:c.1251-59_1251-58delinsTC (F12) NP_000496.2:n.1251-59_1251-58delinsTC
XM_011534461.1:c.1251-59_1251-58delinsTC (F12) XP_011532763.1:n.1251-59_1251-58delinsTC
XM_011534462.1:c.915-59_915-58delinsTC (F12) XP_011532764.1:n.915-59_915-58delinsTC
XM_011534462.2:c.915-59_915-58delinsTC (F12) XP_011532764.1:n.915-59_915-58delinsTC
XM_017009773.2:c.1416+6601_1416+6602delinsGA (SLC34A1) XP_016865262.1:n.1416+6601_1416+6602delinsGA
NM_000505.4:c.1251-59_1251-58delinsTC (F12) MANE Select NP_000496.2:n.1251-59_1251-58delinsTC