Canonical Allele Identifier: CA2505599941
Gene: SPINK5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148107487_148107488insTGCTTGTAAACCTTTCTAATATATA , CM000667.2:g.148107487_148107488insTGCTTGTAAACCTTTCTAATATATA GRCh38
NC_000005.9:g.147487050_147487051insTGCTTGTAAACCTTTCTAATATATA , CM000667.1:g.147487050_147487051insTGCTTGTAAACCTTTCTAATATATA GRCh37
NC_000005.8:g.147467243_147467244insTGCTTGTAAACCTTTCTAATATATA NCBI36
NG_009633.1:g.48516_48517insTGCTTGTAAACCTTTCTAATATATA , LRG_110:g.48516_48517insTGCTTGTAAACCTTTCTAATATATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000481286.6:n.1216+323_1216+324insTGCTTGTAAACCTTTCTAATATATA
ENST00000256084.8:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA MANE Select ENSP00000256084.7:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATA...
ENST00000256084.7:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA ENSP00000256084.7:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATA...
ENST00000359874.7:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA ENSP00000352936.3:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATA...
ENST00000398454.5:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA ENSP00000381472.1:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATA...
ENST00000507988.5:n.1771+323_1771+324insTGCTTGTAAACCTTTCTAATATATA
ENST00000508733.5:c.1550+323_1550+324insTGCTTGTAAACCTTTCTAATATATA ENSP00000421519.1:n.1550+323_1550+324insTGCTTGTAAACCTTTCTAATA...
NM_001127698.1:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA NP_001121170.1:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATAT...
NM_001127699.1:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA NP_001121171.1:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATAT...
NM_006846.3:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA , LRG_110t1:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA NP_006837.2:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA
XM_011537550.1:c.1550+323_1550+324insTGCTTGTAAACCTTTCTAATATATA XP_011535852.1:n.1550+323_1550+324insTGCTTGTAAACCTTTCTAATATAT...
XM_011537551.1:c.1523+323_1523+324insTGCTTGTAAACCTTTCTAATATATA XP_011535853.1:n.1523+323_1523+324insTGCTTGTAAACCTTTCTAATATAT...
XM_011537551.2:c.1523+323_1523+324insTGCTTGTAAACCTTTCTAATATATA XP_011535853.1:n.1523+323_1523+324insTGCTTGTAAACCTTTCTAATATAT...
NM_001127698.2:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA NP_001121170.1:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATAT...
NM_001127699.2:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA NP_001121171.1:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATAT...
NM_006846.4:c.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA MANE Select NP_006837.2:n.1607+323_1607+324insTGCTTGTAAACCTTTCTAATATATA