Canonical Allele Identifier: CA1589902884
Gene: SPINK5 HGNC NCBI

Linked Data

dbSNP Id: rs1754563920

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148131263_148131264del , CM000667.2:g.148131263_148131264del GRCh38
NC_000005.9:g.147510826_147510827del , CM000667.1:g.147510826_147510827del GRCh37
NC_000005.8:g.147491019_147491020del NCBI36
NG_009633.1:g.72292_72293del , LRG_110:g.72292_72293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256084.8:c.2969_2970del MANE Select ENSP00000256084.7:p.Ser990Ter
ENST00000256084.7:c.2969_2970del ENSP00000256084.7:p.Ser990Ter
ENST00000359874.7:c.3059_3060del ENSP00000352936.3:p.Ser1020Ter
NM_001127698.1:c.3059_3060del NP_001121170.1:p.Ser1020Ter
NM_006846.3:c.2969_2970del , LRG_110t1:c.2969_2970del NP_006837.2:p.Ser990Ter
XM_011537550.1:c.3002_3003del XP_011535852.1:p.Ser1001Ter
XM_011537551.1:c.2975_2976del XP_011535853.1:p.Ser992Ter
XM_011537551.2:c.2975_2976del XP_011535853.1:p.Ser992Ter
NM_001127698.2:c.3059_3060del NP_001121170.1:p.Ser1020Ter
NM_006846.4:c.2969_2970del MANE Select NP_006837.2:p.Ser990Ter