Canonical Allele Identifier: CA1101200829

Linked Data

dbSNP Id: rs2044134643

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50529417_50529418del , CM000669.2:g.50529417_50529418del GRCh38
NC_000007.13:g.50597115_50597116del , CM000669.1:g.50597115_50597116del GRCh37
NC_000007.12:g.50564609_50564610del NCBI36
NG_008742.1:g.41041_41042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.436-74_436-73del (DDC) MANE Select ENSP00000403644.2:n.436-74_436-73del
ENST00000357936.9:c.436-74_436-73del (DDC) ENSP00000350616.5:n.436-74_436-73del
ENST00000380984.4:c.436-74_436-73del (DDC) ENSP00000370371.4:n.436-74_436-73del
ENST00000426377.5:c.202-74_202-73del (DDC) ENSP00000395069.1:n.202-74_202-73del
ENST00000430300.5:c.213-1136_213-1135del (DDC)
ENST00000431062.5:c.435+8444_435+8445del (DDC) ENSP00000399184.1:n.435+8444_435+8445del
ENST00000444124.6:c.436-74_436-73del (DDC) ENSP00000403644.2:n.436-74_436-73del
ENST00000444733.5:c.322-74_322-73del (DDC) ENSP00000393724.1:n.322-74_322-73del
ENST00000489162.1:n.235-74_235-73del (DDC)
ENST00000613602.3:c.-11+13102_-11+13103del (FIGNL1) ENSP00000481751.1:n.-11+13102_-11+13103del
ENST00000615193.4:c.435+8444_435+8445del (DDC) ENSP00000484104.1:n.435+8444_435+8445del
ENST00000617822.4:c.436-74_436-73del (DDC) ENSP00000478385.1:n.436-74_436-73del
ENST00000622873.4:c.322-74_322-73del (DDC) ENSP00000479110.1:n.322-74_322-73del
NM_000790.3:c.436-74_436-73del (DDC) NP_000781.1:n.436-74_436-73del
NM_001082971.1:c.436-74_436-73del (DDC) NP_001076440.1:n.436-74_436-73del
NM_001242886.1:c.322-74_322-73del (DDC) NP_001229815.1:n.322-74_322-73del
NM_001242887.1:c.436-74_436-73del (DDC) NP_001229816.1:n.436-74_436-73del
NM_001242888.1:c.202-74_202-73del (DDC) NP_001229817.1:n.202-74_202-73del
NM_001242889.1:c.435+8444_435+8445del (DDC) NP_001229818.1:n.435+8444_435+8445del
NM_001242890.1:c.436-74_436-73del (DDC) NP_001229819.1:n.436-74_436-73del
XM_005271745.3:c.322-74_322-73del (DDC) XP_005271802.1:n.322-74_322-73del
XM_011515161.1:c.85-74_85-73del (DDC) XP_011513463.1:n.85-74_85-73del
XM_005271745.4:c.322-74_322-73del (DDC) XP_005271802.1:n.322-74_322-73del
XM_011515161.2:c.379-74_379-73del (DDC) XP_011513463.2:n.379-74_379-73del
NM_001082971.2:c.436-74_436-73del (DDC) MANE Select NP_001076440.2:n.436-74_436-73del
NM_000790.4:c.436-74_436-73del (DDC) NP_000781.2:n.436-74_436-73del
NM_001242888.2:c.202-74_202-73del (DDC) NP_001229817.2:n.202-74_202-73del
NM_001242890.2:c.436-74_436-73del (DDC) NP_001229819.2:n.436-74_436-73del
NM_001242886.2:c.322-74_322-73del (DDC) NP_001229815.2:n.322-74_322-73del
NM_001242887.2:c.436-74_436-73del (DDC) NP_001229816.2:n.436-74_436-73del
NM_001242889.2:c.435+8444_435+8445del (DDC) NP_001229818.2:n.435+8444_435+8445del